ClinVar Miner

Submissions for variant NC_000021.8:g.(?_38132018)_(38362704_?)del

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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 RCV001953789 SCV002240854 pathogenic Holocarboxylase synthetase deficiency 2021-04-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with HLCS-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-10 of the HLCS gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 10 of 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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