ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.208A>G (p.Ile70Val)

gnomAD frequency: 0.00001  dbSNP: rs747469176
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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 RCV000644809 SCV000766524 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422333 SCV002727152 uncertain significance Inborn genetic diseases 2019-09-20 criteria provided, single submitter clinical testing The p.I70V variant (also known as c.208A>G), located in coding exon 2 of the SETX gene, results from an A to G substitution at nucleotide position 208. The isoleucine at codon 70 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of autosomal dominant juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain.
PreventionGenetics, part of Exact Sciences RCV004533372 SCV004120280 uncertain significance SETX-related disorder 2023-06-09 criteria provided, single submitter clinical testing The SETX c.208A>G variant is predicted to result in the amino acid substitution p.Ile70Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.080% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135221828-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV004723027 SCV005334616 uncertain significance not provided 2024-01-25 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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