ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) (rs200972189)

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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 RCV000040022 SCV000063713 uncertain significance not specified 2012-03-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala7119Ser vari ant in TTN has been identified in 0.2% (7/2996) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS). Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. While this frequency suggests that Ala7119Ser variant is more likely benign, it is too low to confidently rule out a disease c ausing role. Additional information is needed to fully assess its clinical signi ficance.
Genetic Services Laboratory, University of Chicago RCV000118744 SCV000153211 uncertain significance not provided 2013-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000040022 SCV000238358 likely benign not specified 2017-12-01 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.
Invitae RCV001087646 SCV000555200 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000040022 SCV000616032 uncertain significance not specified 2017-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118744 SCV000855157 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing

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