ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)

gnomAD frequency: 0.00001  dbSNP: rs759201960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712987 SCV000843547 uncertain significance not provided 2023-01-27 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.
Natera, Inc. RCV001825425 SCV002086229 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-07-06 no assertion criteria provided clinical testing

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