ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu)

gnomAD frequency: 0.00001  dbSNP: rs776647599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992800 SCV001145351 uncertain significance not provided 2019-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000992800 SCV001996654 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001784524 SCV002026499 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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