ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)

dbSNP: rs1559718601
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002268270 SCV002550877 likely pathogenic Spinocerebellar ataxia type 29 2022-07-26 criteria provided, single submitter clinical testing The variant c.4261G>A (p.(Val1421Met)) in exon 33 of the ITPR1-gene is not found in the gnomAD database, it affects a highly conserved nucleotide, a highly conserved amino acid and there is a small physicochemical difference between Val and Met. This variant has a pathogenic computational verdict based on in silico predictions algorithms. It was found to be de novo in our patient. ACMG criteria used for classification: PM2, PM6, PP2, BP4.
GenomeConnect, ClinGen RCV002311994 SCV000840339 not provided Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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