ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1059G>A (p.Thr353=)

gnomAD frequency: 0.00162  dbSNP: rs61735859
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197907 SCV000249660 benign not specified 2014-12-05 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.
Invitae RCV002517160 SCV000283379 benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002310756 SCV000317718 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-08-31 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812186 SCV001159122 likely benign not provided 2020-01-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000230184 SCV001301244 uncertain significance Classic homocystinuria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277458 SCV002566416 uncertain significance Connective tissue disorder 2020-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000197907 SCV002572476 likely benign not specified 2022-08-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000230184 SCV002083780 likely benign Classic homocystinuria 2019-12-16 no assertion criteria provided clinical testing

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