ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) (rs750969198)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412703 SCV000237848 uncertain significance not specified 2013-07-12 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).
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171308 SCV000221505 likely pathogenic not provided no assertion criteria provided research

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