ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.534dup (p.Glu179Ter)

dbSNP: rs1553851462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674426 SCV000799762 likely pathogenic Ellis-van Creveld syndrome 2018-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861843 SCV002123097 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu179*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 558195). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002532163 SCV003536789 pathogenic Inborn genetic diseases 2021-10-08 criteria provided, single submitter clinical testing The c.534dupT (p.E179*) alteration, located in exon 5 (coding exon 5) of the EVC2 gene, consists of a duplication of T at position 534, causing a translational frameshift with a predicted alternate stop codon after amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the supporting evidence, this variant is expected to be causative of autosomal recessive Ellis-van Creveld syndrome (AR); however, its clinical significance for autosomal dominant Weyers acrofacial dysostosis (AD) is unclear. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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