Submissions for variant NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg)

gnomAD frequency: 0.00078  dbSNP: rs172155862

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703669	SCV000521224	likely benign	not provided	2020-08-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27711072, 23382873, 21887725, 24721656, 26820365, 29568272, 30821013, 30142439)
Invitae	RCV000538303	SCV000646094	likely benign	Progressive familial heart block type IB	2024-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000538303	SCV001295803	uncertain significance	Progressive familial heart block type IB	2017-07-31	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	RCV002429383	SCV002741176	likely benign	Cardiovascular phenotype	2018-12-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Dept of Medical Biology, Uskudar University	RCV003318376	SCV004021996	likely benign	Long QT syndrome	2024-01-08	criteria provided, single submitter	research	Criteria: BS1, BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003488591	SCV004241172	likely benign	not specified	2023-12-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533001	SCV004748244	likely benign	TRPM4-related disorder	2022-02-04	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).