Submissions for variant NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)

gnomAD frequency: 0.00137  dbSNP: rs141433824

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176492	SCV000228158	uncertain significance	not provided	2017-12-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001081834	SCV000435387	uncertain significance	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, 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.
Invitae	RCV001081834	SCV000561046	likely benign	Developmental and epileptic encephalopathy, 12	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000176492	SCV001982394	likely benign	not provided	2020-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453625	SCV002740145	uncertain significance	Inborn genetic diseases	2018-02-14	criteria provided, single submitter	clinical testing	The p.E850D variant (also known as c.2550G>T), located in coding exon 24 of the PLCB1 gene, results from a G to T substitution at nucleotide position 2550. The glutamic acid at codon 850 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003927627	SCV004743381	likely benign	PLCB1-related condition	2019-08-29	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).