ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1409del (p.Gly470fs)

dbSNP: rs1281526839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV001824200 SCV002073781 likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q 2022-02-05 criteria provided, single submitter clinical testing The c.1409del;p.(Gly470Aspfs*3) is a null frameshift variant (NMD) in the DHTKD1 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. This variant is not present in population databases (rs1281526839, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.
Invitae RCV001869830 SCV002186129 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2021-11-26 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 not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly470Aspfs*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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