ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1338G>A (p.Ala446=)

gnomAD frequency: 0.00007  dbSNP: rs373962057
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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 RCV002230843 SCV000555942 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313192 SCV000738482 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-06 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.
GeneDx RCV001613298 SCV001841501 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001613298 SCV004562243 likely benign not provided 2023-04-03 criteria provided, single submitter clinical testing

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