ClinVar Miner

Submissions for variant NM_000071.2(CBS):c.452-153_624dup (rs1568932440)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692522 SCV000820349 pathogenic Classic homocystinuria 2018-03-08 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing part of intron 5, exon 6 and the first 93 nucleotides of exon 7 of the CBS gene (c.452-154_623dup). This results in the insertion of a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CBS-related disease. 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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