ClinVar Miner

Submissions for variant NM_001010874.5(TECRL):c.172A>G (p.Thr58Ala)

gnomAD frequency: 0.00021  dbSNP: rs189087821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337070 SCV001530635 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 3 2018-04-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002412052 SCV002716704 likely benign Cardiovascular phenotype 2021-08-23 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.
PreventionGenetics, part of Exact Sciences RCV003953674 SCV004775456 benign TECRL-related disorder 2020-01-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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