ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) (rs553668520)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155789 SCV000205500 uncertain significance not specified 2013-06-07 criteria provided, single submitter clinical testing The Ala27980Val in TTN has not been reported in individuals with cardiomyopathy or in large population studies. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong s upport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
Ambry Genetics RCV000249201 SCV000320184 likely benign Cardiovascular phenotype 2015-09-16 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155789 SCV000334915 benign not specified 2015-09-01 criteria provided, single submitter clinical testing
Invitae RCV001080345 SCV000555303 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000155789 SCV000616174 benign not specified 2017-02-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769879 SCV000901305 uncertain significance Cardiomyopathy 2015-10-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000184979 SCV001152666 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000184979 SCV000237755 not provided not provided 2014-03-20 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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