ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2098-1G>A

gnomAD frequency: 0.00001  dbSNP: rs773019082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670543 SCV000795406 likely pathogenic Ellis-van Creveld syndrome 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV002531254 SCV003449167 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 14 of the EVC 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 EVC are known to be pathogenic (PMID: 23220543). This variant is present in population databases (rs773019082, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 554844). 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 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.

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