ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr)

gnomAD frequency: 0.01253  dbSNP: rs35047281
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Total submissions: 7
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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 RCV000214095 SCV000269888 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala366Thr in exon 13 of TRDN: This variant is not expected to have clinical sign ificance because it has been identified in 3.7% (133/3592) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35047281).
PreventionGenetics, part of Exact Sciences RCV000214095 SCV000311364 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000214095 SCV000532274 benign not specified 2016-10-06 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.
Invitae RCV002519594 SCV000559448 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618482 SCV000735300 benign Cardiovascular phenotype 2015-07-27 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286500 SCV001473085 benign Catecholaminergic polymorphic ventricular tachycardia 5 2020-08-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000214095 SCV004812963 likely benign not specified 2024-02-25 criteria provided, single submitter clinical testing

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