ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) (rs189286381)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172684 SCV000055036 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040097 SCV000063788 uncertain significance not specified 2012-08-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala8736Thr vari ant in TTN has been identified in 0.8% (3/394) of Han Chinese chromosomes from a broad population by the 1000 Genomes project (dbSNP rs189286381). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2 , and SIFT) do not provide strong support for or against an impact to the protei n. While the variant?s frequency suggests that this variant is more likely benig n, it is too low to confidently rule out a disease causing role. Additional info rmation is needed to fully assess the clinical significance of the Ala8736Thr va riant.
GeneDx RCV000040097 SCV000237050 likely benign not specified 2017-08-25 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 RCV001078743 SCV000555401 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000040097 SCV000605485 likely benign not specified 2016-12-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040097 SCV000705764 likely benign not specified 2017-01-31 criteria provided, single submitter clinical testing

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