ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val)

dbSNP: rs61732523
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001106795 SCV001263894 uncertain significance Nephrotic syndrome, type 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV002284211 SCV002573571 uncertain significance Proteinuria 2022-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002556092 SCV003270787 likely benign not provided 2022-07-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002556092 SCV005190935 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003906201 SCV004721937 likely benign PLCE1-related disorder 2022-10-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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