ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter)

gnomAD frequency: 0.00002  dbSNP: rs267606954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000002443 SCV001162819 pathogenic Nephrotic syndrome, type 3 2020-01-27 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000002443 SCV001335595 pathogenic Nephrotic syndrome, type 3 2020-04-24 criteria provided, single submitter clinical testing A heterozygous nonsense variation in exon 1 of the PLCE1 gene that results in a stop codon and premature truncation of the protein at codon 321 was detected. The observed variant c.961C>T (p.Arg321Ter) has not been reported in the 1000 genomes and has a minor allele frequency of 0.002% in the ExAC databases. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.
OMIM RCV000002443 SCV000022601 pathogenic Nephrotic syndrome, type 3 2010-07-01 no assertion criteria provided literature only

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