ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)

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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 RCV003072380 SCV003467097 pathogenic Holocarboxylase synthetase deficiency 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln173*) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. ClinVar contains an entry for this variant (Variation ID: 2155521). For these reasons, this variant has been classified as Pathogenic.

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