CaseC1: Female, Arab, Israel

CasePresentingHPOs: HP:0010896, HP:0010897, HP:0001638 (Hypersarcosinemia, Hypersarcosinuria, Cardiomyopathy)

HPOsFreeText: Elevated blood Sarcosine (345 μmol/l; reference 0-9), Elevated urine Sarcosine (481 μmol/mmol; reference 0-36)

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: Parents are consanguineous and first cousins, sister has the same genotype

CasePreviousTesting: N/A

CaseGenotypingMethod: DNA was extracted from the probands and immediate family. The whole coding region and the exon-intron boundaries of the SARDH gene was then amplified and sequenced.

Variant: NM_007101.3:c.211G>T (p.Val71Phe)

ClinVar: 39448 https://www.ncbi.nlm.nih.gov/clinvar/variation/39448/

gnomAD: Not in gnomAD

CaseE: Male, French, Germany

CasePresentingHPOs: HP:0010896, HP:0010897 (Hypersarcosinemia, Hypersarcosinuria)

HPOsFreeText: Elevated blood Sarcosine (192 μmol/l; reference 0-9), Elevated urine Sarcosine (645 μmol/mmol; reference 0-36)

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: Phase of the variants are unknown

CasePreviousTesting: N/A

CaseGenotypingMethod: DNA was extracted from the probands and immediate family. The whole coding region and the exon-intron boundaries of the SARDH gene was then amplified and sequenced.

Variant1: NM_007101.3:c.1540C>T (p.Arg514Ter)

ClinVar: 39451 https://www.ncbi.nlm.nih.gov/clinvar/variation/39451/

gnomAD: Latino 2.154e-4, Overall 1.120e-4 https://gnomad.broadinstitute.org/variant/9-136570084-G-A

Variant2: NM_007101.3:c.2167C>T (p.Arg723Ter)

ClinVar: 39450 https://www.ncbi.nlm.nih.gov/clinvar/variation/39450/

gnomAD: African 9.899e-5, Overall 5.729e-6 http://gnomad.broadinstitute.org/variant/9-136536816-G-A

CaseD: Male, French, Quebec

CasePresentingHPOs: HP:0010896, HP:0010897 (Hypersarcosinemia, Hypersarcosinuria)

HPOsFreeText: Elevated blood Sarcosine (229 μmol/l; reference 0-9), Elevated urine Sarcosine (1213 μmol/mmol; reference 0-36)

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: N/A

CasePreviousTesting: N/A

CaseGenotypingMethod: DNA was extracted from the probands and immediate family. The whole coding region and the exon-intron boundaries of the SARDH gene was then amplified and sequenced.

Variant: NM_007101.3:c.860C>T (p.Pro287Leu)

ClinVar: 39449 https://www.ncbi.nlm.nih.gov/clinvar/variation/39449/

gnomAD: European (Finnish) 1.692e-4, Overall 1.032e-4 http://gnomad.broadinstitute.org/variant/9-136594942-G-A