ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs)

dbSNP: rs765535147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490487 SCV000267543 uncertain significance Progressive familial heart block type IB 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490487 SCV002447818 likely benign Progressive familial heart block type IB 2021-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433921 SCV002751237 likely benign Cardiovascular phenotype 2019-09-26 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.
GeneDx RCV000870012 SCV003798930 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing Reported in an individual with DCM and sick sinus syndrome and in an individual with atrioventricular nodal reentry tachycardia; described as c.2985_3012del in both cases (Li et al., 2020; Luo et al., 2020); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; This variant is associated with the following publications: (PMID: 32508047, 31521807)

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