ClinVar Miner

Submissions for variant NM_001130009.3(GEN1):c.2697G>C (p.Gln899His)

gnomAD frequency: 0.00009  dbSNP: rs370541992
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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 RCV001303886 SCV001493151 uncertain significance not provided 2024-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 899 of the GEN1 protein (p.Gln899His). This variant is present in population databases (rs370541992, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GEN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1006790). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV005348421 SCV006015918 uncertain significance not specified 2024-12-14 criteria provided, single submitter clinical testing The p.Q899H variant (also known as c.2697G>C), located in coding exon 13 of the GEN1 gene, results from a G to C substitution at nucleotide position 2697. The glutamine at codon 899 is replaced by histidine, an amino acid with highly 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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