ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24520G>A (p.Val8174Met)

gnomAD frequency: 0.00001  dbSNP: rs727504961
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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 RCV000156371 SCV000206089 uncertain significance not specified 2014-02-27 criteria provided, single submitter clinical testing The Val6930Met variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Add itional information is needed to fully assess the clinical significance of the V al6930Met variant.
GeneDx RCV000156371 SCV000238348 uncertain significance not specified 2013-05-06 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).
Invitae RCV000470837 SCV000542736 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-19 criteria provided, single submitter clinical testing

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