ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2929C>T (p.Leu977=)

gnomAD frequency: 0.00029  dbSNP: rs146296924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840234 SCV000982156 likely benign not provided 2018-04-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001083492 SCV001001663 likely benign Spastic paraplegia 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000840234 SCV001476811 likely benign not provided 2019-10-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277262 SCV001464174 likely benign Charlevoix-Saguenay spastic ataxia 2020-05-02 no assertion criteria provided clinical testing

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