ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94748G>A (p.Arg31583His)

gnomAD frequency: 0.00001  dbSNP: rs727503544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152181 SCV000200918 uncertain significance not specified 2013-09-13 criteria provided, single submitter clinical testing The Arg29015His variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of the Arg29015His variant.
GeneDx RCV000152181 SCV000237795 uncertain significance not specified 2014-06-09 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).
Genetics and Genomics Program, Sidra Medicine RCV001293160 SCV001434157 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research

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