ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96535G>A (p.Val32179Met)

gnomAD frequency: 0.00001  dbSNP: rs727505082
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Total submissions: 2
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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 RCV000156522 SCV000206241 uncertain significance not specified 2014-04-03 criteria provided, single submitter clinical testing The Val29611Met 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 information is needed to fully assess the clinical significance of the Val 29611Met variant.
AiLife Diagnostics, AiLife Diagnostics RCV002223188 SCV002501089 uncertain significance not provided 2022-01-09 criteria provided, single submitter clinical testing

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