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: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp 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.
Fulgent Genetics, Fulgent Genetics RCV002531369 SCV005658290 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-03-14 criteria provided, single submitter clinical testing

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