ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2046+1G>C

dbSNP: rs762947212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670218 SCV000795048 likely pathogenic Ellis-van Creveld syndrome 2017-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767983 SCV004571820 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-05-19 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 554558). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. This sequence change affects a donor splice site in intron 13 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).

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