Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756096 | SCV000883813 | pathogenic | not provided | 2018-04-20 | criteria provided, single submitter | clinical testing | The EVC c.1416delC; p.Phe473Serfs variant (rs768485560) causes a frameshift by deleting a single nucleotide in exon 10,and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.0004% (identified on 1 out of 246,236chromosomes) and, to the best of our knowledge, has not been reported in the medical literature. Based on the available information, the p.Phe473Serfs variant is classified as pathogenic. |