ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801874 SCV000941672 pathogenic Dandy-Walker like malformation with atrioventricular septal defect; Spastic paraplegia 8 2018-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg176*) in the WASHC5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WASHC5-related disease. Loss-of-function variants in WASHC5 are known to be pathogenic (PMID: 24065355). For these reasons, this variant has been classified as Pathogenic.

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