ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs) (rs765926045)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695561 SCV000824070 pathogenic Dandy-Walker like malformation with atrioventricular septal defect; Spastic paraplegia 8 2018-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1009Phefs*3) in the WASHC5 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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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