ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)

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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 RCV003072461 SCV003467997 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change affects codon 1079 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 present in population databases (rs748279631, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. 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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