ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308366 SCV002602061 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-03-15 criteria provided, single submitter clinical testing NM_014363.4(SACS):c.1839_1840ins11(L614Afs*14) is expected to be pathogenic in the context of autosomal recessive spastic ataxia of Charlevoix-Saguenay. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SACS, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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