ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.870C>T (p.Asn290=)

gnomAD frequency: 0.00389  dbSNP: rs141997826
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721279 SCV000527909 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001000470 SCV000560590 benign Progressive familial heart block type IB 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617666 SCV000735125 likely benign Cardiovascular phenotype 2015-08-27 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001721279 SCV001157339 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001000470 SCV001291074 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV001721279 SCV004142174 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing TRPM4: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center RCV000436808 SCV001924154 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000436808 SCV001954256 benign not specified no assertion criteria provided clinical testing

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