ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) (rs80338867)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469759 SCV000550574 pathogenic Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 2017-12-09 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 626 of the WASHC5 protein (p.Val626Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with disease in three families affected with hereditary spastic paraplegia (PMID: 17160902). This gene is also known as WASHC5 and/or strumpellin in the literature. ClinVar contains an entry for this variant (Variation ID: 1161). Experimental studies with zebrafish knockdowns showed that a WASHC5 protein with this variant failed to rescue disease phenotype, suggesting that this variant functionally impairs the WASHC5 protein (PMID: 17160902). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001220 SCV000021370 pathogenic Hereditary spastic paraplegia 8 2007-01-01 no assertion criteria provided literature only
GeneReviews RCV000001220 SCV000041272 pathologic Hereditary spastic paraplegia 8 2008-08-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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