ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.184A>T (p.Ile62Phe)

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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 RCV005221017 SCV005868851 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-03-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 62 of the EVC2 protein (p.Ile62Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004730591 SCV005337804 uncertain significance EVC2-related disorder 2024-09-26 no assertion criteria provided clinical testing The EVC2 c.184A>T variant is predicted to result in the amino acid substitution p.Ile62Phe. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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