Submissions for variant NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)

gnomAD frequency: 0.00042  dbSNP: rs201907325

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV000208441	SCV000264271	uncertain significance	Brugada syndrome	2015-05-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029159	SCV000290315	likely benign	Progressive familial heart block type IB	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001093252	SCV000521223	likely benign	not provided	2020-03-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26820365, 23382873, 20562447, 21887725, 27884173, 26350513, 28341588, 27207958, 22750058, 30021168)
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000029159	SCV000745390	uncertain significance	Progressive familial heart block type IB	2017-11-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000990240	SCV001141118	uncertain significance	Progressive familial heart block, type 1A	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000029159	SCV001294174	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.
Ambry Genetics	RCV002381261	SCV002689562	benign	Cardiovascular phenotype	2018-12-03	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004700279	SCV005203363	likely benign	not specified	2024-07-21	criteria provided, single submitter	clinical testing
OMIM	RCV000029159	SCV000051804	pathogenic	Progressive familial heart block type IB	2012-01-01	no assertion criteria provided	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001093252	SCV001799194	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001093252	SCV001919403	uncertain significance	not provided		no assertion criteria provided	clinical testing