Submissions for variant NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=)

gnomAD frequency: 0.00225  dbSNP: rs61755436

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117931	SCV000152207	benign	not specified	2016-08-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117931	SCV000203290	benign	not specified	2014-01-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226564	SCV000290124	benign	Developmental and epileptic encephalopathy, 12	2025-02-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000226564	SCV000435395	benign	Developmental and epileptic encephalopathy, 12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000117931	SCV000614580	benign	not specified	2024-09-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312218	SCV000846809	benign	Inborn genetic diseases	2018-04-26	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV001610418	SCV001841190	benign	not provided	2020-12-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000226564	SCV002800656	likely benign	Developmental and epileptic encephalopathy, 12	2022-03-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001610418	SCV005207321	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004757129	SCV000312450	benign	PLCB1-related disorder	2024-03-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).