ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1552del (p.Gly519fs)

dbSNP: rs1569206815
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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 RCV001068831 SCV001233964 pathogenic Holocarboxylase synthetase deficiency 2022-04-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly372Alafs*6) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 862161). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. This variant is not present in population databases (gnomAD no frequency).

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