ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.52C>T (p.Arg18Cys) (rs201827340)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251012 SCV000319320 benign Cardiovascular phenotype 2019-05-07 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000359251 SCV000340481 benign not specified 2016-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000359251 SCV000512491 likely benign not specified 2016-10-25 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 RCV000466468 SCV000555946 benign Classic homocystinuria 2020-12-05 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000466468 SCV000803571 likely benign Classic homocystinuria 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Benign, for Cystathionine beta-synthase deficiency, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder (PMID:16205833). BP2 => Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern (PMID:16205833). BS3-Supporting => BS3 downgraded in strength to supporting (PMID:16205833). BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.).
Illumina Clinical Services Laboratory,Illumina RCV000466468 SCV001298526 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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