ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.2071G>A (p.Ala691Thr)

gnomAD frequency: 0.00001  dbSNP: rs147163766
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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 RCV002045419 SCV002293228 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 691 of the IMPG2 protein (p.Ala691Thr). This variant is present in population databases (rs147163766, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with IMPG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1503393). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Dept Of Ophthalmology, Nagoya University RCV003888997 SCV004705605 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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