ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.456_477del (p.Ile152fs)

dbSNP: rs2146387963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994462 SCV002231569 pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2021-03-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile152Metfs*2) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with CBS-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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