Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666197 | SCV000790449 | pathogenic | Ellis-van Creveld syndrome | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001245243 | SCV001418516 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln570*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). This variant is present in population databases (rs769864196, gnomAD 0.005%). This premature translational stop signal has been observed in individuals with Ellis–van Creveld syndrome or short-rib polydactyly syndromes (PMID: 17024374, 19876929, 29068549). ClinVar contains an entry for this variant (Variation ID: 446664). 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. |
Gene |
RCV001574376 | SCV001801187 | pathogenic | not provided | 2023-01-30 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 17024374, 34313030, 19876929, 29068549) |
Revvity Omics, |
RCV001574376 | SCV002022227 | pathogenic | not provided | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001245243 | SCV002811666 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2022-01-19 | criteria provided, single submitter | clinical testing | |
Lifecell International Pvt. |
RCV000666197 | SCV003924054 | pathogenic | Ellis-van Creveld syndrome | criteria provided, single submitter | clinical testing | A Homozygote, Nonsense variant c.1708C>T in Exon 11 of the EVC2 gene that results in the amino acid substitution p.Gln570* was identified. The observed variant has a maximum allele frequency of 0.00003/0.00003% in gnomAD exomes and genomes, respectively. The severity of the impact of this variant on the protein is high, based on the effect of the protein and REVEL score . Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. ClinVar has also classified this variant as Pathogenic (Clinvar ID: 446664). This disorder has previously been reported in the patient affected skeletal ciliopathies (Zhang W et. al 2017) Based on the above evidence this variant has been classified as Pathogenic according to the ACMG guidelines. | |
Dan Cohn Lab, |
RCV000666197 | SCV000612087 | pathogenic | Ellis-van Creveld syndrome | 2017-06-01 | no assertion criteria provided | research | |
Dan Cohn Lab, |
RCV000515819 | SCV000612091 | pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | 2017-06-01 | no assertion criteria provided | research | |
Dan Cohn Lab, |
RCV000516102 | SCV000612119 | pathogenic | Type IV short rib polydactyly syndrome | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000516102 | SCV001479699 | likely pathogenic | Type IV short rib polydactyly syndrome | no assertion criteria provided | research | ||
University of Washington Center for Mendelian Genomics, |
RCV000515819 | SCV001479750 | likely pathogenic | Short-rib thoracic dysplasia 6 with or without polydactyly | no assertion criteria provided | research | ||
University of Washington Center for Mendelian Genomics, |
RCV000666197 | SCV001479928 | likely pathogenic | Ellis-van Creveld syndrome | no assertion criteria provided | research |