ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73827del (p.Glu24609fs)

dbSNP: rs397517695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040593 SCV000064284 likely pathogenic Primary dilated cardiomyopathy 2012-09-10 no assertion criteria provided clinical testing The Glu22041fs variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 22041 and lead to a pre mature termination codon 3 amino acids downstream. Heterozygous loss of function of the TTN gene is strongly associated with DCM (Herman 2012). In summary, the Glu22041fs variant is likely pathogenic, though additional studies are required to fully establish its clinical significance.

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