ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1807G>A (p.Val603Met)

gnomAD frequency: 0.00006  dbSNP: rs886042994
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000261132 SCV000337780 uncertain significance not provided 2015-11-25 criteria provided, single submitter clinical testing
Invitae RCV002518953 SCV003244529 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 603 of the EVC protein (p.Val603Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 284955). 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.

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