ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003780282 SCV004603753 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723464 SCV005338764 uncertain significance SETX-related disorder 2024-08-28 no assertion criteria provided clinical testing The SETX c.6578C>G variant is predicted to result in the amino acid substitution p.Thr2193Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of East Asian 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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