Submissions for variant NM_147127.5(EVC2):c.3360+1G>A

dbSNP: rs1553815019

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000673627	SCV000798853	likely pathogenic	Ellis-van Creveld syndrome	2018-03-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003766905	SCV004567991	pathogenic	Ellis-van Creveld syndrome; Curry-Hall syndrome	2023-10-04	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 19 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with autosomal recessive EVC2-related conditions (PMID: 19810119, 29068549). ClinVar contains an entry for this variant (Variation ID: 446666). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab, University Of California Los Angeles	RCV000516027	SCV000612090	pathogenic	Jeune thoracic dystrophy	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000516027	SCV001479748	likely pathogenic	Jeune thoracic dystrophy		no assertion criteria provided	research