ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg)

gnomAD frequency: 0.00007  dbSNP: rs758563983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786671 SCV002028559 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002506825 SCV002816383 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541247 SCV002990718 benign Spastic paraplegia 2024-01-19 criteria provided, single submitter clinical testing

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