ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2401A>T (p.Lys801Ter)

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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 RCV003055553 SCV003348117 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2022-09-29 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 present in population databases (rs190101915, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Lys801*) in the DHTKD1 gene. It is expected to 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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