ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1887-5_1904del (rs779275317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665782 SCV000789954 likely pathogenic Ellis-van Creveld syndrome 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV001202364 SCV001373474 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-09-10 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 14 (c.1887-5_1904del) of the EVC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with Ellis-van Creveld syndrome (PMID: 19251731). This variant is also known as Del IVS13 (-9 to -14) in the literature. ClinVar contains an entry for this variant (Variation ID: 550897). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). 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.
GeneDx RCV001584533 SCV001812810 pathogenic not provided 2021-06-02 criteria provided, single submitter clinical testing Deletion predicted to destroy the canonical splice acceptor site in a gene for which loss-of-function is a known mechanism of disease; Reported as likely pathogenic in ClinVar but additional evidence is not available (ClinVar Variation ID 550897; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 19251731, 27535533)

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