ClinVar Miner

Submissions for variant NM_015046.5(SETX):c.6848_6851delCAGA (p.Thr2283Lysfs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176318 SCV000227952 pathogenic not provided 2012-08-14 criteria provided, single submitter clinical testing
Invitae RCV000686045 SCV000813548 pathogenic Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2020-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2283Lysfs*32) in the SETX gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to be homozygous or in combination with another SETX variant in individuals affected with ataxia with oculomotor apraxia (PMID: 19141356, 24814856). ClinVar contains an entry for this variant (Variation ID: 95668). Loss-of-function variants in SETX are known to be pathogenic (PMID: 14770181). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000988267 SCV001137922 likely pathogenic Amyotrophic lateral sclerosis type 4 2019-05-28 criteria provided, single submitter clinical testing

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