ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) (rs186273940)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154913 SCV000204595 uncertain significance not specified 2015-03-18 criteria provided, single submitter clinical testing The p.Ser24515Pro variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.04% (30/66212) of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs186273940). Computational prediction tools and conservation analysi s do not provide strong support for or against an impact to the protein. In summ ary, the clinical significance of the p.Ser24515Pro variant is uncertain.
Invitae RCV000229774 SCV000286854 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252341 SCV000318599 likely benign Cardiovascular phenotype 2013-04-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082433 SCV000333012 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000082433 SCV001477175 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000082433 SCV000237610 not provided not provided 2013-03-06 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 DCM panel(s).

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