ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)

gnomAD frequency: 0.00002  dbSNP: rs747913385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214631 SCV001386320 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV003313191 SCV004012706 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV003313191 SCV005190535 uncertain significance not provided criteria provided, single submitter not provided

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