ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys)

gnomAD frequency: 0.00002  dbSNP: rs397517830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642900 SCV000764587 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493005 SCV002785940 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 2021-10-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017706 SCV004848884 uncertain significance Primary dilated cardiomyopathy 2023-01-23 criteria provided, single submitter clinical testing The p.Glu3832Lys variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This variant has also been reported in ClinVar (Variation ID 535115). In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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