ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)

gnomAD frequency: 0.00012  dbSNP: rs141553858
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688531 SCV000816147 likely benign Spastic paraplegia 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001756169 SCV001995174 uncertain significance not provided 2019-11-01 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
Genome-Nilou Lab RCV001784312 SCV002026671 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001756169 SCV004229940 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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