ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1769dup (p.Met590fs)

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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 RCV003111867 SCV003784546 pathogenic Holocarboxylase synthetase deficiency 2023-05-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2417039). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Met443Ilefs*134) 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).
Baylor Genetics RCV003111867 SCV005059694 likely pathogenic Holocarboxylase synthetase deficiency 2023-12-04 criteria provided, single submitter clinical testing

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