ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1424976594
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000578283 SCV000680220 pathogenic Ellis-van Creveld syndrome 2017-12-09 criteria provided, single submitter clinical testing
Invitae RCV001049990 SCV001214075 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 20 and introduces a new termination codon (PMID: 23220543). However the mRNA is not expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 488510). This variant has been observed in individuals with Ellis-van Creveld syndrome (PMID: 23220543, 29321360; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein.
Myriad Genetics, Inc. RCV000578283 SCV002060207 likely pathogenic Ellis-van Creveld syndrome 2021-11-10 criteria provided, single submitter clinical testing NM_153717.2(EVC):c.2894+3A>G is an intronic variant classified as likely pathogenic in the context of EVC-related Ellis-van Creveld syndrome. c.2894+3A>G has been observed in cases with relevant disease (PMID: 23220543, 29321360). Functional assessments of this variant are available in the literature (PMID: 23220543). c.2894+3A>G has been observed in population frequency databases (gnomAD: NFE 0.002%). In summary, NM_153717.2(EVC):c.2894+3A>G is an intronic variant that has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Genomics England Pilot Project, Genomics England RCV000578283 SCV001760139 likely pathogenic Ellis-van Creveld syndrome no assertion criteria provided clinical testing
Natera, Inc. RCV000578283 SCV002083068 pathogenic Ellis-van Creveld syndrome 2020-12-09 no assertion criteria provided clinical testing

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