ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) (rs770649540)

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Total submissions: 2
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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 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing The R834X variant in the DHTKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R834X variant is observed in 1/16662 (0.006%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). We interpret R834X as a likely pathogenic variant.

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