ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1089A>G (p.Gln363=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002647738 SCV003523101 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-05-31 criteria provided, single submitter clinical testing This sequence change affects codon 363 of the EVC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EVC2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EVC2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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