ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.705A>G (p.Gln235=)

gnomAD frequency: 0.00002  dbSNP: rs768647764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091299 SCV001247242 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005225225 SCV005862421 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-04-30 criteria provided, single submitter clinical testing This sequence change affects codon 235 of the EVC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EVC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs768647764, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 871382). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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