Submissions for variant NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)

gnomAD frequency: 0.00391  dbSNP: rs45608240

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192006	SCV000152198	likely benign	not specified	2015-05-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000192006	SCV000226142	likely benign	not specified	2017-11-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000341113	SCV000435370	uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000460186	SCV000561049	benign	Developmental and epileptic encephalopathy, 12	2024-01-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000460186	SCV000743118	likely benign	Developmental and epileptic encephalopathy, 12	2015-05-12	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000460186	SCV000744127	likely benign	Developmental and epileptic encephalopathy, 12	2017-11-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313912	SCV000847999	benign	Inborn genetic diseases	2018-01-17	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV000858290	SCV001153425	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PLCB1: PP2, BP4, BS2
GeneDx	RCV000858290	SCV001867399	benign	not provided	2020-12-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32970752)
PreventionGenetics, part of Exact Sciences	RCV003975034	SCV004792612	likely benign	PLCB1-related condition	2023-11-22	criteria provided, single submitter	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).