ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.402del (p.Thr135fs)

dbSNP: rs1057517083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411736 SCV000486721 likely pathogenic Classic homocystinuria 2016-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002230218 SCV001585459 pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2022-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr135Argfs*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 present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CBS-related conditions. ClinVar contains an entry for this variant (Variation ID: 371200). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000411736 SCV004215540 pathogenic Classic homocystinuria 2023-03-21 criteria provided, single submitter clinical testing

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