ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.3172C>T (p.Pro1058Ser)

dbSNP: rs1176943043
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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 RCV001073865 SCV001239429 uncertain significance Retinal dystrophy 2018-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862521 SCV002246160 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1058 of the IMPG2 protein (p.Pro1058Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IMPG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 866107). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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