ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.5800G>A (p.Ala1934Thr)

gnomAD frequency: 0.00004  dbSNP: rs373554736
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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 RCV002047672 SCV002294059 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1503944). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ITPR1-related conditions. This variant is present in population databases (rs373554736, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1871 of the ITPR1 protein (p.Ala1871Thr).
Ambry Genetics RCV004631918 SCV005125293 uncertain significance Inborn genetic diseases 2024-05-01 criteria provided, single submitter clinical testing The c.5611G>A (p.A1871T) alteration is located in exon 42 (coding exon 40) of the ITPR1 gene. This alteration results from a G to A substitution at nucleotide position 5611, causing the alanine (A) at amino acid position 1871 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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