ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28606C>A (p.Pro9536Thr)

gnomAD frequency: 0.00002  dbSNP: rs201121983
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Total submissions: 3
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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 RCV000172371 SCV000055038 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040081 SCV000063772 uncertain significance not specified 2012-11-05 criteria provided, single submitter clinical testing The Pro8292Thr variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 1/593 chr omosomes from the broad and racially unspecified ClinSeq population (dbSNP rs201 121983); however, this could be an asymptomatic individual. Computational analys es (biochemical amino acid properties, conservation, AlignGVGD, and PolyPhen2) s uggest that the Pro8292Thr variant may not impact the protein, though this infor mation is not predictive enough to rule out pathogenicity. Additional informatio n is needed to fully assess the clinical significance of the Pro8292Thr variant.
GeneDx RCV000040081 SCV000238396 uncertain significance not specified 2013-04-03 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).

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