ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter)

dbSNP: rs1601803431
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810578 SCV000950791 pathogenic Holocarboxylase synthetase deficiency 2018-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr195*) in the HLCS gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HLCS are known to be pathogenic (PMID: 16134170). This variant has not been reported in the literature in individuals with HLCS-related conditions. This variant is not present in population databases (ExAC no frequency).

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