ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) (rs148375192)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552679 SCV000645242 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 906 of the SETX protein (p.Ser906Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs148375192, ExAC 0.003%) but has not been reported in the literature in individuals with a SETX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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