ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)

gnomAD frequency: 0.00001  dbSNP: rs754463353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707560 SCV000836661 pathogenic Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 2018-03-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg228*) in the WASHC5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754463353, ExAC 0.001%). 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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