ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.377A>G (p.His126Arg)

gnomAD frequency: 0.00004  dbSNP: rs368932301
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093201 SCV001250061 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing SETX: PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV001242996 SCV001416124 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001093201 SCV002552744 uncertain significance not provided 2022-01-20 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
Mayo Clinic Laboratories, Mayo Clinic RCV001093201 SCV005410860 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing PM2_moderate
PreventionGenetics, part of Exact Sciences RCV004536143 SCV004118264 uncertain significance SETX-related disorder 2024-02-23 no assertion criteria provided clinical testing The SETX c.377A>G variant is predicted to result in the amino acid substitution p.His126Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0070% 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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