ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90104G>A (p.Arg30035His)

gnomAD frequency: 0.00010  dbSNP: rs199895320
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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 RCV000643149 SCV000764836 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000184954 SCV003820144 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000184954 SCV000237725 not provided not provided 2013-08-05 no assertion provided clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM panel(s).

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