ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) (rs142414432)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155017 SCV000204700 uncertain significance not specified 2013-12-26 criteria provided, single submitter clinical testing The Ala445Thr variant in TTN has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 5/8600 European American chromosome s by the NHLBI Exome Sequencing Project (; dbSNP rs1 42414432). Computational analyses (amino acid biochemical properties, conservat ion, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or agains t an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant.
Invitae RCV000232642 SCV000286440 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724953 SCV000332698 uncertain significance not provided 2018-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000155017 SCV000714767 likely benign not specified 2017-10-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000619102 SCV000737290 uncertain significance Cardiovascular phenotype 2017-07-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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