ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)

gnomAD frequency: 0.00001  dbSNP: rs758411198
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001067682 SCV001232753 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-12-07 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SETX-related conditions. This variant is present in population databases (rs758411198, ExAC 0.003%). This sequence change replaces alanine with valine at codon 1760 of the SETX protein (p.Ala1760Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Ambry Genetics RCV002348469 SCV002641702 uncertain significance Inborn genetic diseases 2021-04-13 criteria provided, single submitter clinical testing The p.A1760V variant (also known as c.5279C>T), located in coding exon 9 of the SETX gene, results from a C to T substitution at nucleotide position 5279. The alanine at codon 1760 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003233945 SCV003931337 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233946 SCV003931338 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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