ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4136A>G (p.His1379Arg)

gnomAD frequency: 0.00006  dbSNP: rs181158146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794763 SCV002032714 uncertain significance not provided 2021-12-20 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002541275 SCV002975888 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-08-26 criteria provided, single submitter clinical testing

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