ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11576G>A (p.Arg3859His)

gnomAD frequency: 0.00004  dbSNP: rs149427669
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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 RCV001336179 SCV001529503 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-08-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002547350 SCV003490034 benign Spastic paraplegia 2023-12-11 criteria provided, single submitter clinical testing

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