ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1610G>A (p.Arg537Gln)

gnomAD frequency: 0.00001  dbSNP: rs749386587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025736 SCV002287959 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 522 of the ITPR1 protein (p.Arg522Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs749386587, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with ITPR1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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