ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+1799G>C (rs147314430)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172721 SCV000051330 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041001 SCV000064692 uncertain significance not specified 2012-10-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser3692Thr vari ant in TTN has not been reported in the literature nor previously identified by our laboratory. This variant has been identified in 0.1% (11/8598) of European A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (; dbSNP rs147314430). Computational analyses are limited or unavailable for this variant. In summary, the low frequency of th is variant suggest that it is likely benign, though this is insufficient to esta blish this with certainty. Additional information is needed to fully assess the clinical significance of this variant.
GeneDx RCV000041001 SCV000238090 uncertain significance not specified 2015-06-08 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).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041001 SCV000702040 likely benign not specified 2016-10-16 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709884 SCV000840225 not provided Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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