ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2618G>A (p.Arg873His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002693324 SCV003734567 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.2618G>A (p.R873H) alteration is located in exon 18 (coding exon 18) of the EVC gene. This alteration results from a G to A substitution at nucleotide position 2618, causing the arginine (R) at amino acid position 873 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005227863 SCV005865049 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-08-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 873 of the EVC protein (p.Arg873His). This variant is present in population databases (rs767972554, gnomAD 0.01%). 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: 2386600). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EVC protein function with a positive predictive value of 80%. 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.

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