ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.2629A>C (p.Met877Leu)

dbSNP: rs1271049751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073545 SCV001239093 uncertain significance Retinal dystrophy 2019-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001351784 SCV001546280 uncertain significance not provided 2020-08-04 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IMPG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 865938). This sequence change replaces methionine with leucine at codon 877 of the IMPG2 protein (p.Met877Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine. This variant is not present in population databases (ExAC no frequency).

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