ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.5825C>T (p.Ala1942Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002745797 SCV003016883 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1879 of the ITPR1 protein (p.Ala1879Val). This variant is present in population databases (rs762273738, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ITPR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1971918). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ITPR1 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV004067800 SCV004890375 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.5636C>T (p.A1879V) alteration is located in exon 42 (coding exon 40) of the ITPR1 gene. This alteration results from a C to T substitution at nucleotide position 5636, causing the alanine (A) at amino acid position 1879 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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