ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)

dbSNP: rs746807833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754746 SCV001996339 uncertain significance not provided 2020-01-17 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003771980 SCV004580359 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-01-22 criteria provided, single submitter clinical testing

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