ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1321G>A (p.Val441Ile) (rs202150959)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822582 SCV000963391 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 441 of the EVC protein (p.Val441Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs202150959, ExAC 0.07%). This variant has not been reported in the literature in individuals with EVC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002573 SCV001160546 uncertain significance not specified 2019-05-03 criteria provided, single submitter clinical testing The EVC c.1321G>A; p.Val441Ile variant (rs202150959), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.042% (119/282858 alleles) in the Genome Aggregation Database. The valine at codon 441 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Val441Ile variant is uncertain at this time.

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