ClinVar Miner

Submissions for variant NM_001130009.3(GEN1):c.893G>A (p.Cys298Tyr)

dbSNP: rs374326909
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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 RCV001324488 SCV001515442 uncertain significance not provided 2024-10-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 298 of the GEN1 protein (p.Cys298Tyr). This variant is present in population databases (rs374326909, gnomAD 0.01%). 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: 1024322). 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 RCV004917682 SCV005593264 uncertain significance not specified 2024-11-24 criteria provided, single submitter clinical testing The p.C298Y variant (also known as c.893G>A), located in coding exon 7 of the GEN1 gene, results from a G to A substitution at nucleotide position 893. The cysteine at codon 298 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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