ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.*540G>A

gnomAD frequency: 0.01634  dbSNP: rs111386779
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224812 SCV000281615 uncertain significance not provided 2015-02-06 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Illumina Laboratory Services, Illumina RCV000226284 SCV000436195 benign Classic homocystinuria 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454427 SCV000538599 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 24/2178=1.1%
GeneDx RCV000224812 SCV002015445 likely benign not provided 2021-05-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21957013)
Invitae RCV002055001 SCV002349423 benign HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2023-12-06 criteria provided, single submitter clinical testing

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