ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002410649 SCV002721401 uncertain significance Inborn genetic diseases 2020-10-21 criteria provided, single submitter clinical testing The p.A640G variant (also known as c.1919C>G), located in coding exon 8 of the SETX gene, results from a C to G substitution at nucleotide position 1919. The alanine at codon 640 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
Revvity Omics, Revvity RCV003138258 SCV003827512 uncertain significance not provided 2020-06-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003774565 SCV004588017 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV003138258 SCV005372808 uncertain significance not provided 2023-07-07 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
PreventionGenetics, part of Exact Sciences RCV004733508 SCV005353098 uncertain significance SETX-related disorder 2024-06-18 no assertion criteria provided clinical testing The SETX c.1919C>G variant is predicted to result in the amino acid substitution p.Ala640Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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