Submissions for variant NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg)

gnomAD frequency: 0.00016  dbSNP: rs186429469

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000345142	SCV000335165	likely benign	not specified	2015-09-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083399	SCV000435401	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	RCV001083399	SCV000650124	benign	Developmental and epileptic encephalopathy, 12	2024-01-08	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712707	SCV000843227	likely benign	not provided	2018-03-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317805	SCV000851653	likely benign	Inborn genetic diseases	2018-08-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000712707	SCV001153429	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	PLCB1: BS2
GeneDx	RCV000712707	SCV001983967	likely benign	not provided	2021-04-21	criteria provided, single submitter	clinical testing