ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)

gnomAD frequency: 0.00001  dbSNP: rs546932016
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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 RCV000793058 SCV000932394 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003344049 SCV004061409 uncertain significance Inborn genetic diseases 2023-08-01 criteria provided, single submitter clinical testing Unlikely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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