ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala)

dbSNP: rs1419129064
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069580 SCV001234758 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2022-07-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 862787). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 804 of the WASHC5 protein (p.Thr804Ala).

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