ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2392G>A (p.Gly798Arg)

gnomAD frequency: 0.00009  dbSNP: rs142738089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768940 SCV001993729 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002538790 SCV003517935 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 798 of the EVC protein (p.Gly798Arg). This variant is present in population databases (rs142738089, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1305733). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003163833 SCV003876245 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.2392G>A (p.G798R) alteration is located in exon 16 (coding exon 16) of the EVC gene. This alteration results from a G to A substitution at nucleotide position 2392, causing the glycine (G) at amino acid position 798 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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