ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs)

dbSNP: rs2146336516
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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 RCV002037787 SCV002229138 pathogenic Holocarboxylase synthetase deficiency 2021-07-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HLCS-related conditions. This sequence change creates a premature translational stop signal (p.Arg396Glyfs*25) in the HLCS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HLCS are known to be pathogenic (PMID: 16134170).

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