ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)

gnomAD frequency: 0.00014  dbSNP: rs201688358
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040717 SCV000064408 uncertain significance not specified 2013-03-06 criteria provided, single submitter clinical testing The Ile26014Lys in TTN has not been reported in the literature nor previously id entified by our laboratory. This variant has been identified in 0.1% (5/3696) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201688358). Computationa l analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen 2, and SIFT) suggest that this variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, addition al information is needed to fully assess the clinical significance of this varia nt.
Eurofins Ntd Llc (ga) RCV000725085 SCV000333893 uncertain significance not provided 2015-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622216 SCV000737214 likely benign Cardiovascular phenotype 2020-03-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000725085 SCV003820135 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing

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