ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.2872A>G (p.Ser958Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234083 SCV001406709 uncertain significance not provided 2019-09-21 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 958 of the IMPG2 protein (p.Ser958Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with retinitis pigmentosa (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Department of Genetics,Fundacion Jimenez Diaz University Hospital RCV001270356 SCV001450583 likely pathogenic Vitelliform macular dystrophy type 2 criteria provided, single submitter clinical testing Variant not found in gnomAD, missense variant in a gene that has a low rate of benign missense variation, predicted deleterious by in-silico pathogenicity predictors, and cosegregates with the disease in the affected father. (ACMG: PM2 Moderate; PP1 Supporting; PP2 Supporting; PP3 Supporting)

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