ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85598_85603del (p.Val28533_Gly28534del)

dbSNP: rs727503553
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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 RCV000152199 SCV000200955 uncertain significance not specified 2013-11-20 criteria provided, single submitter clinical testing The Val25965_Gly25966del variant in TTN has not been previously reported in indi viduals with cardiomyopathy or in large population studies. This variant is a de letion of 2 amino acids at position 25965 and is not predicted to alter the prot ein reading-frame. Computational tools suggest an impact to splicing. However, t his information is not predictive enough to determine pathogenicity. This data r aises the possibility that the Val25965_Gly25966del variant may be pathogenic bu t additional studies are needed to fully assess its clinical significance.

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