ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile)

gnomAD frequency: 0.31528  dbSNP: rs3765524
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245651 SCV000312687 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000616997 SCV000366247 benign Nephrotic syndrome, type 3 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000616997 SCV000743715 benign Nephrotic syndrome, type 3 2014-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001610692 SCV001841361 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25139097, 20729852)
Genome-Nilou Lab RCV000616997 SCV002031630 benign Nephrotic syndrome, type 3 2021-10-25 criteria provided, single submitter clinical testing
Invitae RCV001610692 SCV002401814 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294190 SCV002587253 benign Focal segmental glomerulosclerosis 2022-09-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616997 SCV000732982 benign Nephrotic syndrome, type 3 no assertion criteria provided clinical testing

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