ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) (rs200061856)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727214 SCV000884779 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing The c.18843T>A; p.Asp6281Glu variant (rs200061856) has not been reported in the medical literature, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a population frequency of 0.01 percent in the European Non-Finnish population (identified on 13 out of 108,992 chromosomes), and is listed in the ClinVar database as uncertain significance (Variation ID: 46701). The aspartic acid at position 6281 is highly conserved (Alamut v2.9.0) and computational analyses of the p.Asp6281Glu variant on protein structure and function indicate a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Asp6281Glu variant with certainty.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727214 SCV000706659 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000039971 SCV000727063 likely benign not specified 2018-01-24 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039971 SCV000063662 uncertain significance not specified 2012-04-04 criteria provided, single submitter clinical testing The Asp6281Glu variant in TTN has been identified in 2/6694 European American ch romosomes in a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS). Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fu lly assess the clinical significance of this variant.

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