ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5264del (p.Thr1755fs) (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 1 2018-08-14 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with ataxia with oculomotor apraxia (PMID: 14770181, 17159128, 19696032). Loss-of-function variants in SETX are known to be pathogenic (PMID: 14770181). For these reasons, this variant has been classified as Pathogenic.

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