ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.829-249_878del

dbSNP: rs2146366969
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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 RCV002044527 SCV002108053 pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2021-04-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro290 amino acid residue in CBS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8803779, 7564249, 22267502). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with CBS-related conditions. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 10 (c.829-249_878del) of the CBS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992).

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