ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr)

gnomAD frequency: 0.00183  dbSNP: rs146935076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002525661 SCV000559449 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607213 SCV000711500 benign not specified 2018-03-14 criteria provided, single submitter clinical testing p.Pro511Thr in exon 25 of TRDN: This variant is classified as benign because it has been identified in 0.7% (159/23872) of African chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs146935076). ACMG/AMP Criteria: BA1.
GeneDx RCV001721523 SCV000717449 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619012 SCV000736305 likely benign Cardiovascular phenotype 2018-10-03 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.

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