ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys)

gnomAD frequency: 0.00004  dbSNP: rs766573431
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838192 SCV001414391 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-08-31 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223934 SCV002502285 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406697 SCV002717942 uncertain significance Cardiovascular phenotype 2020-06-26 criteria provided, single submitter clinical testing The p.Y637C variant (also known as c.1910A>G), located in coding exon 14 of the APOB gene, results from an A to G substitution at nucleotide position 1910. The tyrosine at codon 637 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001838192 SCV002781507 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-07 criteria provided, single submitter clinical testing

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