ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)

gnomAD frequency: 0.00064  dbSNP: rs112029370
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002525534 SCV000543516 uncertain significance HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 99 of the CBS protein (p.Phe99Tyr). This variant is present in population databases (rs112029370, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with CBS-related conditions. ClinVar contains an entry for this variant (Variation ID: 405376). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001704553 SCV000589389 likely benign not provided 2019-09-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000497848 SCV000602919 uncertain significance not specified 2016-08-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000459701 SCV001781420 uncertain significance Classic homocystinuria 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436393 SCV002749720 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV001704553 SCV005410140 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing BP4

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