ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp)

dbSNP: rs1559507734
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680138 SCV000807582 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 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory with a de novo nonsense variant (phase unknown) in a 14-year-old male with motor delays, frequent falls, progressive weakness, myofibrillar myopathy, gynecomastia, tall habitus, obesity, cardiomyopathy, mild splenomegaly.
Fulgent Genetics, Fulgent Genetics RCV000680138 SCV002780324 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 2021-08-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140075 SCV003824183 uncertain significance not provided 2021-02-03 criteria provided, single submitter clinical testing

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