ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1376G>A (p.Arg459His)

gnomAD frequency: 0.00086  dbSNP: rs142312281
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538128 SCV000646085 likely benign Progressive familial heart block type IB 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384174 SCV002699504 likely benign Cardiovascular phenotype 2019-11-08 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.
GeneDx RCV003317271 SCV004021586 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing Identified in a patient with reported history of bradycardia, failure to thrive, hypoxemia, hypsarrhythmia, PFO, seizures, and tachycardia (Ji et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30755392)
PreventionGenetics, part of Exact Sciences RCV004541720 SCV004764293 likely benign TRPM4-related disorder 2020-09-25 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).
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000584777 SCV000692557 likely benign Seizure; Failure to thrive; Patent foramen ovale; Tachycardia; Bradycardia; Hypsarrhythmia; Hypoxemia no assertion criteria provided clinical testing

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