ClinVar Miner

Submissions for variant NC_000021.8:g.(?_38302531)_(38302753_?)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 RCV004579312 SCV005068062 pathogenic Holocarboxylase synthetase deficiency 2023-07-07 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.Val363Asp) have been determined to be pathogenic (PMID: 8817339, 10068510, 10590022, 19806568; 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 a gross deletion of the genomic region encompassing exon(s) 6 of the HLCS gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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