ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)

dbSNP: rs1301855639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267667 SCV001445894 pathogenic Ellis-van Creveld syndrome 2019-07-18 criteria provided, single submitter clinical testing This nonsense variant found in exon 17 of 22 is predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0004% (1/245848) and thus is presumed to be rare. Based on the available evidence, the c.2833C>T (p.Arg945Ter) variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386726 SCV001587072 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg945*) 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 (no rsID available, gnomAD 0.0009%). 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: 986352). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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