ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.129G>A (p.Thr43=)

gnomAD frequency: 0.00011  dbSNP: rs373840513
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696772 SCV000534342 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000419162 SCV000711502 likely benign not specified 2016-05-18 criteria provided, single submitter clinical testing p.Thr43Thr in exon 2 of TRDN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 11/16512 of South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs373840513).
Labcorp Genetics (formerly Invitae), Labcorp RCV002522623 SCV001697651 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379381 SCV002692448 likely benign Cardiovascular phenotype 2021-12-29 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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