ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.519+1G>A

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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 RCV003029096 SCV003326525 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-07-31 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individuals with autosomal recessive EVC2-related conditions (PMID: 17024374; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects a donor splice site in intron 4 of the EVC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). ClinVar contains an entry for this variant (Variation ID: 2107213). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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