ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile)

gnomAD frequency: 0.00003  dbSNP: rs752029771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000786899 SCV001260411 uncertain significance Nephrotic syndrome, type 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786899 SCV000925799 likely pathogenic Nephrotic syndrome, type 3 2018-11-12 no assertion criteria provided clinical testing

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