ClinVar Miner

Submissions for variant NM_005861.4(STUB1):c.134C>A (p.Ala45Glu)

dbSNP: rs2151503733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808109 SCV002058587 uncertain significance Spinocerebellar ataxia 48 2022-01-03 criteria provided, single submitter clinical testing The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.841, 3CNET: 0.861, PP3_P). A missense variant is a common mechanism associated with Spinocerebellar ataxia 48 (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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