ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)

gnomAD frequency: 0.00004  dbSNP: rs372529790
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754372 SCV001987480 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002543933 SCV003538607 uncertain significance Inborn genetic diseases 2022-03-21 criteria provided, single submitter clinical testing The c.3115A>G (p.I1039V) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a A to G substitution at nucleotide position 3115, causing the isoleucine (I) at amino acid position 1039 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003234096 SCV003931458 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234097 SCV003931459 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771906 SCV004572079 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-06-24 criteria provided, single submitter clinical testing

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