ClinVar Miner

Submissions for variant NC_000010.10:g.(?_12143021)_(12143200_?)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 RCV003119929 SCV003795193 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2022-09-20 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 affected with DHTKD1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 10 of the DHTKD1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DHTKD1 are known to be pathogenic (PMID: 23141293, 25860818).

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