ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)

gnomAD frequency: 0.00006  dbSNP: rs201505036
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466695 SCV000552974 likely benign Spastic paraplegia 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288373 SCV001475438 uncertain significance not provided 2023-03-17 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 disagree on the variant's effect on normal protein function.
Mayo Clinic Laboratories, Mayo Clinic RCV001288373 SCV004226406 uncertain significance not provided 2022-12-30 criteria provided, single submitter clinical testing PM2
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV001833594 SCV005061934 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research
Natera, Inc. RCV001833594 SCV002086165 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-08-01 no assertion criteria provided clinical testing

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