ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2134C>T (p.Arg712Ter)

gnomAD frequency: 0.00005  dbSNP: rs745432268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693577 SCV000821450 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2023-04-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 572241). This premature translational stop signal has been observed in individual(s) with alpha-ketoadipic aciduria (PMID: 25860818). This variant is present in population databases (rs745432268, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg712*) 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).
Revvity Omics, Revvity RCV003140099 SCV003827581 pathogenic not provided 2022-11-30 criteria provided, single submitter clinical testing

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