ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val)

dbSNP: rs1554591077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231723 SCV000636812 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 991 of the WASHC5 protein (p.Ile991Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. 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. 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.

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