ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)

gnomAD frequency: 0.00002  dbSNP: rs754144089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756657 SCV001986229 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing Reported in a patient in the published literature with ataxia, muscle weakness, retinal atrophy, and nystagmus who has another variant on the opposite allele (Blumkin et al., 2015; Kuperberg et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25819952, 27572814)
Fulgent Genetics, Fulgent Genetics RCV002488511 SCV002788872 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543940 SCV003289120 likely benign Spastic paraplegia 2023-12-18 criteria provided, single submitter clinical testing

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