ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) (rs144507279)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416031 SCV000493345 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001201348 SCV000760070 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 808 of the WASHC5 protein (p.Ile808Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs144507279, ExAC 0.02%). This variant has been reported in a family affected with hereditary spastic paraplegia (HSP) (PMID: 27957547). ClinVar contains an entry for this variant (Variation ID: 374553). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Fulgent Genetics,Fulgent Genetics RCV000638546 SCV000897418 uncertain significance Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 2018-10-31 criteria provided, single submitter clinical testing

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