ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys)

dbSNP: rs876658097
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Total submissions: 3
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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 RCV000218343 SCV000272821 uncertain significance not specified 2015-04-16 criteria provided, single submitter clinical testing The p.Met31222Lys variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein, though 1 species (tenrec) has a lysine (Lys) at this positi on, raising the possibility that this change may be tolerated. In summary, the c linical significance of the p.Met31222Lys variant is uncertain.
Invitae RCV001346680 SCV001540904 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494576 SCV002797026 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 2021-08-31 criteria provided, single submitter clinical testing

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