ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)

gnomAD frequency: 0.00001  dbSNP: rs1007936574
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712989 SCV000843549 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000712989 SCV001715023 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001784353 SCV002026507 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000712989 SCV002765342 uncertain significance not provided 2022-05-27 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
Invitae RCV002534516 SCV003442415 likely benign Spastic paraplegia 2023-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001784353 SCV002086220 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-10 no assertion criteria provided clinical testing

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