ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)

dbSNP: rs2125159710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545840 SCV001765248 pathogenic not provided 2021-03-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729945 SCV001976942 likely pathogenic Spinocerebellar ataxia type 15/16 2021-10-01 criteria provided, single submitter clinical testing PS2, PM1, PM2, PP3

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