ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.816T>A (p.Cys272Ter) (rs528689432)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507871 SCV000602924 likely pathogenic not provided 2017-05-29 criteria provided, single submitter clinical testing The p.Cys272Ter variant (rs528689432) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. The c.816T>A variant creates a termination codon in the CBS protein at position 272 in exon 9 which is predicted to result in a truncated or absent protein product. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Exome Aggregation Consortium (ExAC) browser. Based on these observations the p.Cys272Ter variant has been classified as likely pathogenic.
Invitae RCV000673238 SCV001211240 pathogenic Classic homocystinuria 2019-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys272*) in the CBS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CBS-related conditions. ClinVar contains an entry for this variant (Variation ID: 439461). Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000507871 SCV001789568 likely pathogenic not provided 2020-11-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)
Counsyl RCV000673238 SCV000798419 likely pathogenic Classic homocystinuria 2018-03-05 no assertion criteria provided clinical testing

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