ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44104G>C (p.Asp14702His)

gnomAD frequency: 0.00002  dbSNP: rs727503627
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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 RCV000152352 SCV000201264 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The Asp12134His variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. Addit ional studies are needed to fully assess the clinical significance of this varia nt.

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