ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)

dbSNP: rs1342457304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389480 SCV001590871 pathogenic Holocarboxylase synthetase deficiency 2023-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp402*) 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: 1075784). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001389480 SCV004199830 likely pathogenic Holocarboxylase synthetase deficiency 2024-03-11 criteria provided, single submitter clinical testing

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