Case#: Family AU-1, 35yo, female, Austrian

DiseaseAssertion: DOA+

FamilyInfo: positive family history, 2 relatives in table 1

CasePresentingHPOs: HP:0000648, HP:0000365, HP:0001251, HP:0000590, HP:0001138

CaseHPOFreeText:

CaseNotHPOs: HP:0003198

CaseNotHPOFreeText:

PreviouslyPublished: n/a

GenotypingMethod: The entire OPA1-coding region and flanking exon–intron boundaries were amplified by the polymerase chain reaction (PCR) and sequenced with BigDye terminator cycle chemistries on an appropriate genetic analyser. All genetic variants were confirmed by reverse sequencing

Variant: c.1635C>G (p.S545R) aka c.1800C>G (p.S600R)

ClinVar: 30461

CAID: CA10575554

SupplementalData:

Case#: Family FR-1, 30yo, male, French

DiseaseAssertion: DOA+

FamilyInfo: positive family history, but no information provided

CasePresentingHPOs: HP:0000648, HP:0000365, HP:0001251, HP:0003198, HP:0001138

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

PreviouslyPublished: n/a

GenotypingMethod: The entire OPA1-coding region and flanking exon–intron boundaries were amplified by the polymerase chain reaction (PCR) and sequenced with BigDye terminator cycle chemistries on an appropriate genetic analyser. All genetic variants were confirmed by reverse sequencing

Variant: c.1635C>G (p.S545R) aka c.1800C>G (p.S600R)

ClinVar: 30461

CAID: CA10575554

SupplementalData:

Case#: Pedigree OA-16, North of England

DiseaseAssertion: optic atrophy

FamilyInfo: 2 additional affected individuals

CasePresentingHPOs: HP:0000648

CaseHPOFreeText: Snellen BCVA 20/200 - hand movement, mean age of onset= 3.7yrs

CaseNotHPOs:

CaseNotHPOFreeText:

PreviouslyPublished: Cautious that they may overlap with the individuals from Hudson et al since both are from England, but the author notes that they "checked against the eOPA1 database (http://lbbma.univ-angers.fr/eOPA1/, Accessed 10-12-09) to determine whether they had been described in previous mutational reports."

GenotypingMethod: The entire coding region of the OPA1 and OPA3 genes was amplified by PCR and sequenced. Variants were confirmed by reverse sequencing.

Variant: c.1635C>G; p.S545R

ClinVar: 30461

CAID: CA10575554

SupplementalData:

This variant is found in table S2A to have an OR of infinity with a CI (10.92-infinity).

This variant is found in table S2A to have an OR of infinity with a CI (25.35-infinity), so PS4 is applicable

This variant is found in table S2A to have an OR of infinity with a CI (14.02-infinity), so PS4 is applicable