ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln)

dbSNP: rs727504735
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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 RCV000156032 SCV000205745 uncertain significance not specified 2013-08-22 criteria provided, single submitter clinical testing The Lys2711Gln variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may impact the protein, though this information is not predictive enoug h to determine pathogenicity. Additional information is needed to fully assess t he clinical significance of the Lys2711Gln variant.
Fulgent Genetics, Fulgent Genetics RCV002484945 SCV002782337 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-17 criteria provided, single submitter clinical testing

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