ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)

gnomAD frequency: 0.00026  dbSNP: rs369470593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527749 SCV000645240 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456163 SCV002736765 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The p.T816A variant (also known as c.2446A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 2446. The threonine at codon 816 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004592584 SCV005080560 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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