ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)

dbSNP: rs2106494596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001358673 SCV001554466 likely pathogenic Spinocerebellar ataxia type 29 2021-04-07 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV001358673 SCV002012085 likely pathogenic Spinocerebellar ataxia type 29 2021-10-02 criteria provided, single submitter clinical testing The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.937, 3Cnet: 0.940, PP3). Patient's phenotype is considered compatible with Spinocerebellar ataxia 29, congenital nonprogressive (3billion dataset, PP4). Therefore, this variant is classified as likley pathogenic according to the recommendation of ACMG/AMP guideline.

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