ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)

gnomAD frequency: 0.00002  dbSNP: rs148824690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456310 SCV001660088 likely benign Spastic paraplegia 2024-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001813824 SCV002061105 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Mayo Clinic Laboratories, Mayo Clinic RCV001813824 SCV005408464 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing PM2

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