ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)

gnomAD frequency: 0.00004  dbSNP: rs751176093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756458 SCV001985234 uncertain significance not provided 2019-10-15 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 that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002539868 SCV003277846 likely benign Spastic paraplegia 2024-02-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001756458 SCV005408443 uncertain significance not provided 2023-09-29 criteria provided, single submitter clinical testing PM2_moderate

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