ClinVar Miner

Submissions for variant NC_000010.10:g.(?_12159652)_(12159774_?)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 RCV004580438 SCV005065722 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2023-02-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 14 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). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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