ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) (rs201688358)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 Other strong data supporting benign classification

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