ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1416del (p.Phe473fs)

dbSNP: rs768485560
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, 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.

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