ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)

dbSNP: rs1060499656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449537 SCV000537710 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-09-14 criteria provided, single submitter clinical testing This homozygous variant in the SACS gene was found in a young girl. The mother and the father are both heterozygous for this variant.

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