ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.186dup (p.Tyr63fs)

gnomAD frequency: 0.00001  dbSNP: rs1383399355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001916888 SCV002194733 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2021-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.86dup (p.Y63IfsX3). This premature translational stop signal has been observed in individual(s) with 2-aminoadipic 2-oxoadipic aciduria (PMID: 25860818). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr63Ilefs*3) 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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