ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter)

gnomAD frequency: 0.00001  dbSNP: rs201369986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335922 SCV001529182 likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q 2018-04-10 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001865840 SCV002151967 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg455*) 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 present in population databases (rs201369986, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033496). For these reasons, this variant has been classified as Pathogenic.

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