ClinVar Miner

Submissions for variant NC_000010.10:g.(?_12154879)_(12155083_?)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 RCV004580437 SCV005065721 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2023-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DHTKD1 protein in which other variant(s) (p.Gly729Arg) have been determined to be pathogenic (PMID: 23141293, 25860818, 26141459; 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 observed in the literature in individuals with autosomal recessive DHTKD1-related conditions. This variant has been reported in individual(s) with clinical features of autosomal dominant DHTKD1-related conditions (Invitae); however, the role of the variant in this condition is currently unclear. This variant is a gross deletion of the genomic region encompassing exon(s) 13 of the DHTKD1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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