Submissions for variant NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)

gnomAD frequency: 0.00134  dbSNP: rs61751493

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000327511	SCV000366206	likely benign	Nephrotic syndrome, type 3	2018-01-13	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514699	SCV000610088	uncertain significance	not provided	2017-08-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000514699	SCV000843208	uncertain significance	not provided	2017-08-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514699	SCV002371171	likely benign	not provided	2024-06-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004748714	SCV005352946	likely benign	PLCE1-related disorder	2024-03-11	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).