ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)

dbSNP: rs879253866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235070 SCV000292364 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2015-08-18 criteria provided, single submitter research This variant is predicted deleterious according to ACMG guidelines, and was identified in a homozygous state in an individual with ataxia, peripheral neuropathy and oculomotor apraxia.
GeneDx RCV004719784 SCV005325338 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26257172)

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