ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.4250G>A (p.Arg1417His)

gnomAD frequency: 0.00001  dbSNP: rs766019080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769411 SCV002001287 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing 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
PreventionGenetics, part of Exact Sciences RCV003416438 SCV004107382 uncertain significance ITPR1-related disorder 2022-11-22 criteria provided, single submitter clinical testing The ITPR1 c.4178G>A variant is predicted to result in the amino acid substitution p.Arg1393His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-4735394-G-A). An alternate missense change at the same amino acid position has been reported as a variant of uncertain significance in a patient with Peters' anomaly, but no additional studies confirmed its pathogenicity (Chesneau et al. 2022. PubMed ID: 35170016, alternate nomenclature NM_001099952.2:c.4222C>T, p.Arg1408Cys). At this time, the clinical significance of the p.Arg1393His variant is uncertain due to the absence of conclusive functional and genetic evidence.

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