ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter)

gnomAD frequency: 0.00008  dbSNP: rs148855956
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579014 SCV000681178 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing The R96X variant in the TRPM4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R96X variant is observed in 44/18854 (0.23%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). We interpret R96X as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV000765457 SCV000896748 uncertain significance Progressive familial heart block type IB 2018-10-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852756 SCV000995474 likely benign Cardiomyopathy 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV000765457 SCV001614650 likely benign Progressive familial heart block type IB 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372759 SCV004093385 likely benign Cardiovascular phenotype 2023-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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