ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.547A>G (p.Lys183Glu) (rs730881077)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159236 SCV000209182 pathogenic not provided 2013-03-30 criteria provided, single submitter clinical testing The Lys183Glu mutation in the TNNI3 gene has been reported in association with HCM (Mogensen J et al., 2004). Mogensen et al. identified Lys183Glu in three affected individuals from one family with HCM and it was not observed in 150 control chromosomes. Also, Lys183Glu was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Other mutations at this codon (Lys183Asn) and in nearby codons (Glu182Lys, Glu184Lys, Asn185Lys) have been reported in association with cardiomyopathy, further supporting the functional importance of this codon and this region of the protein. In summary, Lys183Glu in the TNNI3 gene is interpreted as a disease-causing mutation. The variant is found in HCM panel(s).

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