ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.175-9G>A

gnomAD frequency: 0.00001  dbSNP: rs753317536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000754968 SCV000788395 likely pathogenic Ellis-van Creveld syndrome 2018-05-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV002275101 SCV002563813 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV002531369 SCV003514003 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-10-08 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the EVC gene. It does not directly change the encoded amino acid sequence of the EVC protein. This variant is present in population databases (rs753317536, gnomAD 0.007%). This variant has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 33875766). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 558765). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 33875766). 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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