ClinVar Miner

Submissions for variant NC_000021.8:g.(?_38302541)_(38311304_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383991 SCV001583330 pathogenic Holocarboxylase synthetase deficiency 2022-01-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-6 of the HLCS gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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 has not been reported in the literature in individuals affected with HLCS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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