ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8108G>A (p.Arg2703His) (rs750181262)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668456 SCV000793063 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-08-02 criteria provided, single submitter clinical testing
GeneDx RCV001576889 SCV001804162 uncertain significance not provided 2021-01-05 no assertion criteria provided clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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: 26288984, 29482223)

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