ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)

dbSNP: rs780468544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001730160 SCV001977019 uncertain significance Ritscher-Schinzel syndrome 1 2020-09-22 criteria provided, single submitter clinical testing The variant c.2429A>T (p.Lys810Met) in the WASHC5 gene is reported with an estimated allele frequency of 0.000003979 in gnomAD exomes, with no homozygous individuals reported. The nucleotide position is conserved across 35 mammalian species (GERP RS: 5.41). In silico analysis indicates that the variant might be damaging.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538699 SCV002990283 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 810 of the WASHC5 protein (p.Lys810Met). This variant is present in population databases (rs780468544, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1299699). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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