ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile)

dbSNP: rs2125159718
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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 RCV001358678 SCV001554479 likely pathogenic Spinocerebellar ataxia type 29 2021-04-07 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV001358678 SCV005045129 uncertain significance Spinocerebellar ataxia type 29 2024-03-22 criteria provided, single submitter clinical testing The ITPR1 c.755C>T (p.Thr252Ile) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that correlates with impact to ITPR1 function. This variant has been reported in the ClinVar database as a germline likely pathogenic variant by one submitter. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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