ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) (rs540161344)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156662 SCV000206383 uncertain significance not specified 2015-01-14 criteria provided, single submitter clinical testing The p.Gly21340Asp variant in TTN has been identified by our laboratory in 1 adol escent with DCM, but has also been identified in 7/9800 African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computat ional prediction tools and conservation analyses suggest this variant may impact the protein, though this information is not predictive enough to determine path ogenicity. In summary, the clinical significance of the p.Gly21340Asp variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000764319 SCV000895338 uncertain significance 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 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000184787 SCV001476370 likely benign not provided 2019-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000184787 SCV000237499 not provided not provided 2014-07-08 no assertion provided 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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