ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)

dbSNP: rs567650774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755062 SCV001995887 uncertain significance not provided 2019-09-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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 that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV003772018 SCV004660835 likely benign Spastic paraplegia 2023-12-26 criteria provided, single submitter clinical testing

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