ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val)

dbSNP: rs1586352875
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801541 SCV000941318 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2020-02-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WASHC5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with valine at codon 720 of the WASHC5 protein (p.Phe720Val). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and valine.

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