ClinVar Miner

Submissions for variant NM_001130009.3(GEN1):c.364G>A (p.Glu122Lys)

gnomAD frequency: 0.00001  dbSNP: rs201084834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501411 SCV000594970 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Invitae RCV001229610 SCV001402062 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GEN1-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 435317). This variant is present in population databases (rs201084834, gnomAD 0.0008%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 122 of the GEN1 protein (p.Glu122Lys).

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