ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) (rs769917929)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414033 SCV000492369 uncertain significance not specified 2016-12-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TRPM4 gene. The Q752X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Q752X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Nevertheless, only one nonsense variant (W525X) has been reported in HGMD in association with sudden unexpected death in infancy (Stenson et al., 2014), and haploinsufficiency is not a well-established disease mechanism for the TRPM4 gene. Moreover, the Exome Aggregation Consortium reports Q752X was observed in 26/5080 (0.5%) alleles from individuals of European (Non-Finnish) background, indicating it may be a rare benign variant in these populations.
Ambry Genetics RCV000618995 SCV000736388 likely benign Cardiovascular phenotype 2018-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Subpopulation frequency in support of benign classification,Other data supporting benign classification
Invitae RCV000645473 SCV000767218 benign Progressive familial heart block type 1B 2017-10-30 criteria provided, single submitter clinical testing

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