ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.871-2_894del

dbSNP: rs755789146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669317 SCV000794059 likely pathogenic Ellis-van Creveld syndrome 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001052473 SCV001216685 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553798). This variant has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 21199751). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs755789146, gnomAD 0.006%). This variant results in the deletion of part of exon 8 (c.871-2_894del) 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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