ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter)

gnomAD frequency: 0.00001  dbSNP: rs770649540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000198805 SCV000255357 likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q 2013-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000579104 SCV000681058 uncertain significance not provided 2019-10-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25326637, 29669943)
Invitae RCV002515470 SCV003290210 pathogenic 2-aminoadipic 2-oxoadipic aciduria 2022-05-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg834*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 216917). This premature translational stop signal has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease and/or eosinophilic esophagitis (PMID: 25326637, 29669943). This variant is present in population databases (no rsID available, gnomAD 0.006%).
Molecular Genetics Lab, CHRU Brest RCV003883140 SCV004697625 likely pathogenic 2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease axonal type 2Q criteria provided, single submitter clinical testing

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