ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4846A>C (p.Asn1616His)

gnomAD frequency: 0.00001  dbSNP: rs979327782
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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 RCV001663557 SCV001880427 uncertain significance not provided 2022-10-07 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.
Natera, Inc. RCV001827569 SCV002086265 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-10-08 no assertion criteria provided clinical testing

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