ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5264del (p.Thr1755fs)

dbSNP: rs776632212
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694115 SCV000822544 pathogenic Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2020-01-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SETX are known to be pathogenic (PMID: 14770181). This variant has been reported in individuals affected with autosomal recessive ataxia with oculomotor apraxia (PMID: 17159128, 19696032). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1755Ilefs*31) in the SETX gene. It is expected to result in an absent or disrupted protein product.

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