ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)

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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 RCV003863995 SCV004668465 pathogenic Holocarboxylase synthetase deficiency 2023-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of holocarboxylase synthetase deficiency (PMID: 16134170). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu353Alafs*7) 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).

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