ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1211T>G (p.Val404Gly)

gnomAD frequency: 0.16504  dbSNP: rs28494009
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215171 SCV000269891 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Val404Gly in exon 17 of TRDN: This variant is not expected to have clinical sign ificance because it has been identified in 18.9% (671/3550) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs28494009).
PreventionGenetics, part of Exact Sciences RCV000215171 SCV000311368 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000215171 SCV000520319 benign not specified 2016-09-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000619348 SCV000735000 benign Cardiovascular phenotype 2015-03-23 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002515616 SCV001730345 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000215171 SCV003928257 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing

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