ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1257G>A (p.Leu419=)

gnomAD frequency: 0.00083  dbSNP: rs138432416
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174657 SCV000225995 likely benign not specified 2015-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000174657 SCV000249662 benign not specified 2014-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002228618 SCV000649824 benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2025-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812151 SCV001472212 benign not provided 2019-11-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277343 SCV002566449 uncertain significance Connective tissue disorder 2019-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415744 SCV002681734 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-05 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000174657 SCV004038536 likely benign not specified 2023-08-10 criteria provided, single submitter clinical testing

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