ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)

dbSNP: rs1553757628
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622722 SCV000741306 uncertain significance Inborn genetic diseases 2016-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764511 SCV000895590 uncertain significance Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992210 SCV001144285 uncertain significance not provided 2019-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000992210 SCV001795773 likely pathogenic not provided 2022-12-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 34758253)
Invitae RCV000992210 SCV004456895 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2487 of the ITPR1 protein (p.Gly2487Arg). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ITPR1 protein function. ClinVar contains an entry for this variant (Variation ID: 520945). This variant has not been reported in the literature in individuals affected with ITPR1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Genomics England Pilot Project, Genomics England RCV001542743 SCV001760124 likely pathogenic Spinocerebellar ataxia type 29 no assertion criteria provided clinical testing

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