ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.523C>T (p.Arg175Trp)

gnomAD frequency: 0.00001  dbSNP: rs780372739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000302040 SCV000335751 uncertain significance not provided 2015-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000302040 SCV001998791 uncertain significance not provided 2020-01-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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