ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)

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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 RCV002624197 SCV003513714 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 842 of the EVC protein (p.Gly842Asp). This variant is present in population databases (rs768398433, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. 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 not expected to disrupt EVC 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 RCV002647309 SCV003661059 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.2525G>A (p.G842D) alteration is located in exon 17 (coding exon 17) of the EVC gene. This alteration results from a G to A substitution at nucleotide position 2525, causing the glycine (G) at amino acid position 842 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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