ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)

gnomAD frequency: 0.00004  dbSNP: rs761960824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336181 SCV001529505 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-03-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546765 SCV002969254 benign Spastic paraplegia 2023-07-15 criteria provided, single submitter clinical testing

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