ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1452C>G (p.Tyr484Ter)

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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 RCV003642438 SCV004484220 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr484*) 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). This variant is not present in population databases (gnomAD no frequency). 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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