ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer)

dbSNP: rs2137637877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775262 SCV002011990 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-10-02 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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