ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251012 SCV000319320 benign Cardiovascular phenotype 2017-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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 Homocystinuria due to CBS deficiency 2017-11-21 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000466468 SCV000803571 likely benign Homocystinuria due to CBS deficiency 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.).

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