ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58208C>G (p.Ala19403Gly)

gnomAD frequency: 0.00006  dbSNP: rs573503792
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184653 SCV000237340 uncertain significance not specified 2013-09-13 criteria provided, single submitter 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).
Revvity Omics, Revvity RCV003137724 SCV003818420 uncertain significance not provided 2020-05-25 criteria provided, single submitter clinical testing

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