ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1631del (p.Asp544fs)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002770359 SCV003019667 pathogenic Holocarboxylase synthetase deficiency 2022-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp397Valfs*17) 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. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV002770359 SCV003834314 likely pathogenic Holocarboxylase synthetase deficiency 2022-02-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV002770359 SCV004199836 likely pathogenic Holocarboxylase synthetase deficiency 2023-08-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002770359 SCV005664098 likely pathogenic Holocarboxylase synthetase deficiency 2024-05-23 criteria provided, single submitter clinical testing

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