ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu)

gnomAD frequency: 0.00002  dbSNP: rs1467772045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000610129 SCV000731254 uncertain significance Spinocerebellar ataxia type 15/16 2018-01-23 criteria provided, single submitter research
GeneDx RCV001770541 SCV001993415 uncertain significance not provided 2019-03-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001770541 SCV004380748 uncertain significance not provided 2023-06-04 criteria provided, single submitter clinical testing 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 not expected to disrupt ITPR1 protein function. ClinVar contains an entry for this variant (Variation ID: 517142). This variant has not been reported in the literature in individuals affected with ITPR1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1060 of the ITPR1 protein (p.Pro1060Leu).

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