ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)

dbSNP: rs1174060268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250044 SCV002516545 pathogenic Holocarboxylase synthetase deficiency 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV002250044 SCV005049288 likely pathogenic Holocarboxylase synthetase deficiency 2023-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002250044 SCV005790514 pathogenic Holocarboxylase synthetase deficiency 2024-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp568*) 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 not present in population databases (gnomAD no frequency). 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: 1685877). For these reasons, this variant has been classified as Pathogenic.

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