ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.19del (p.Gln7fs)

dbSNP: rs748695461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002240520 SCV001230657 pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2023-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 859549). This premature translational stop signal has been observed in individual(s) with homocystinuria due to CBS deficiency (PMID: 25218699). This variant is present in population databases (rs748695461, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln7Argfs*75) 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291551 SCV001480071 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462597 SCV004213860 pathogenic Classic homocystinuria 2024-01-23 criteria provided, single submitter clinical testing

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