ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.1226G>A (p.Trp409Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066819 SCV001231839 pathogenic Classic homocystinuria 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp409*) in the CBS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs376916741, ExAC 0.03%). This variant has been observed in individual(s) with homocystinuria (PMID: 9266356). 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. Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). For these reasons, this variant has been classified as Pathogenic.

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