ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2894+3A>G (rs1424976594)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578283 SCV000680220 pathogenic Ellis-van Creveld syndrome 2017-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000578283 SCV000799759 likely pathogenic Ellis-van Creveld syndrome 2018-05-04 criteria provided, single submitter clinical testing
Invitae RCV001049990 SCV001214075 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-10-29 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the EVC gene. It does not directly change the encoded amino acid sequence of the EVC protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Ellis-van Creveld syndrome (PMID: 23220543, 29321360, Invitae). ClinVar contains an entry for this variant (Variation ID: 488510). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.

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