ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.153_165del (p.Arg51fs)

dbSNP: rs1555876784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674825 SCV000800226 likely pathogenic Classic homocystinuria 2018-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531362 SCV003288977 pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2023-03-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CBS-related conditions. This sequence change creates a premature translational stop signal (p.Arg51Serfs*27) in the CBS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 558538). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003327444 SCV004034317 likely pathogenic not provided 2024-06-06 criteria provided, single submitter clinical testing Frameshift 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 at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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