ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.547C>G (p.Arg183Gly) (rs727503512)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152100 SCV000200757 uncertain significance not specified 2014-06-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Arg173Gly v ariant in TNNT2 has not been previously reported in individuals with cardiomyopa thy or in large population studies. This variant was predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's p athogenic prediction is estimated to be correct 94% of the time (Jordan 2011). T his is consistent with two different DCM variants at this position (Arg173Trp; C ampbell 2013; Arg173Gln, Van Acker 2009). In summary, while there is some suspic ion for a pathogenic role, the clinical significance of this variant is uncertai n.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678755 SCV000804931 uncertain significance Dilated cardiomyopathy 2017-04-19 criteria provided, single submitter clinical testing

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