ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2304+2T>C

dbSNP: rs1553892090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667205 SCV000791623 likely pathogenic Ellis-van Creveld syndrome 2017-05-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734396 SCV000862535 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532061 SCV003481548 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-01-07 criteria provided, single submitter clinical testing 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. This sequence change affects a donor splice site in intron 15 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 17024374). ClinVar contains an entry for this variant (Variation ID: 552015).
Fulgent Genetics, Fulgent Genetics RCV002532061 SCV005662716 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-03-05 criteria provided, single submitter clinical testing

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