All reported ABCA4 variants (Supplementary Table S1) were classified as follows:
Patient 38 has this variant and also c.5882G>A p.(Gly1961Glu) (Supplement 4-supplementary table 1). Phase is unknown and more specific phenotype information is not provided.
clinical diagnosis of STGD1 was supported by the presence of ≥1 (likely) pathogenic ABCA4 variants with a follow-up data of ≥6 months on FAF imaging.
ABCA4P28592/1STGDc.6285T>Cp.D2095Drs1801555
Case#: Patient P28592/1,
DiseaseAssertion: STGD
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: Custom 300-kb retinal resequencing chip. PCR amplification, DNA fragmentation, and chip hybridization. Hybridization signals were analyzed using Sequence pilot module seq-C mutation detection software (2009). This resequencing approach was validated by Sanger sequence technology.
PreviouslyPublished: n/a
Variant: c.635G>A p.(R212H); c.6445C>T p.(R2149X); c.6285T>C p.(D2095D)
CAID: CA285825
SupplementalData: n/a
Supplement 4Click here for additional data file.(480K, pdf)Supplement 5Click here for additional data file.(460K, pdf)
This variant was found in 92 of the 670 alleles in this cohort (Supplement 4). Supplement 5 has the individuals listed with their genotypes, but only mentions variants that were classified as VUS/LP/P, so it is unknown which individuals specifically had this variant or which other variants they also had.