ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.482G>A (p.Arg161His) (rs201048783)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000501101 SCV000598117 uncertain significance Left ventricular noncompaction 6 2016-11-21 criteria provided, single submitter clinical testing This TNNT2 variant was found in compound heterozygosity with one another TNNT2 variant in a young patient with severe dilated cardiomyopathy. The patient also harbours a pathogenic variant in TTN gene. The combination of these three variants explains this severe phenotype in a such young patient.

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