ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2458del (p.Gln820fs)

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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 RCV002710744 SCV003007370 pathogenic Holocarboxylase synthetase deficiency 2022-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the HLCS protein in which other variant(s) (p.Gln696*) have been determined to be pathogenic (PMID: 11124959; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with HLCS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln673Lysfs*33) in the HLCS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acid(s) of the HLCS protein.

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