ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)

gnomAD frequency: 0.00001  dbSNP: rs766799023
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516603 SCV000615173 uncertain significance not specified 2016-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851461 SCV002175158 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233677 SCV003931475 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233678 SCV003931476 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537860 SCV004115526 uncertain significance SETX-related disorder 2023-01-30 criteria provided, single submitter clinical testing The SETX c.3028C>T variant is predicted to result in the amino acid substitution p.Arg1010Cys. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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