ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4903T>A (p.Leu1635Met)

gnomAD frequency: 0.00001  dbSNP: rs1466879487
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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 RCV000545900 SCV000645270 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2020-01-27 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SETX-related disease. This sequence change replaces leucine with methionine at codon 1635 of the SETX protein (p.Leu1635Met). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and methionine.

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