ClinVar Miner

Submissions for variant NM_001130009.3(GEN1):c.521C>G (p.Thr174Arg)

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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 RCV003703179 SCV004469990 uncertain significance not provided 2022-12-03 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with GEN1-related conditions. This variant is present in population databases (rs761577393, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 174 of the GEN1 protein (p.Thr174Arg).
Ambry Genetics RCV004634326 SCV005123886 uncertain significance not specified 2024-12-19 criteria provided, single submitter clinical testing The p.T174R variant (also known as c.521C>G), located in coding exon 3 of the GEN1 gene, results from a C to G substitution at nucleotide position 521. The threonine at codon 174 is replaced by arginine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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