ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)

gnomAD frequency: 0.00003  dbSNP: rs121434379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781169 SCV002020080 pathogenic not provided 2021-10-19 criteria provided, single submitter clinical testing
GeneDx RCV001781169 SCV002513081 pathogenic not provided 2022-04-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25116135, 17159128, 23129421, 33333218, 33397523, 20301333, 19697368, 17720498, 15732101)
OMIM RCV000002382 SCV000022540 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2006-12-12 no assertion criteria provided literature only
GeneReviews RCV000002382 SCV002588717 not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 no assertion provided literature only

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