ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+1978T>A (rs144209883)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152461 SCV000201562 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ser3752Thr in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (15/3726) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs144209883). Ser3752Thr in exon 45A of TTN ( rs144209883; allele frequency = 0.4%, 15/3726) **
GeneDx RCV000152461 SCV000238092 uncertain significance not specified 2016-08-16 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 CARDIOMYOPATHY panel(s).

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