ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1512G>A (p.Glu504=)

gnomAD frequency: 0.00004  dbSNP: rs149170219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235610 SCV001043170 likely benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390884 SCV002703651 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-02-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV000898933 SCV001464444 uncertain significance Classic homocystinuria 2020-08-13 no assertion criteria provided clinical testing

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