Submissions for variant NM_017636.4(TRPM4):c.755G>A (p.Arg252His)

gnomAD frequency: 0.00453  dbSNP: rs146564314

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228055	SCV000290328	benign	Progressive familial heart block type IB	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000426184	SCV000520371	benign	not specified	2016-11-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000622072	SCV000735325	benign	Cardiovascular phenotype	2015-07-21	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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852759	SCV000995477	benign	Cardiomyopathy	2019-04-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000228055	SCV001291071	uncertain significance	Progressive familial heart block type IB	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000228055	SCV001440891	likely benign	Progressive familial heart block type IB	2019-01-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812651	SCV001474359	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000426184	SCV004029580	likely benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001812651	SCV004142173	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TRPM4: BP4, BS2