Submissions for variant NM_017636.4(TRPM4):c.3427A>G (p.Ser1143Gly)

gnomAD frequency: 0.00198  dbSNP: rs138603244

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000465359	SCV000560586	benign	Progressive familial heart block type IB	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620172	SCV000736363	benign	Cardiovascular phenotype	2016-11-09	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.
Illumina Laboratory Services, Illumina	RCV000465359	SCV001291331	likely benign	Progressive familial heart block type IB	2018-01-12	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001707705	SCV001936181	likely benign	not provided	2020-11-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31195250)