ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45268C>A (p.Gln15090Lys)

dbSNP: rs397517579
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Total submissions: 2
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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 RCV000040254 SCV000063945 uncertain significance not specified 2016-08-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Gln12522Lys v ariant in TTN has been identified by our laboratory in 1 Asian individual with D CM. This variant has also been identified in 0.1% (17/16502) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs397517579). Computational prediction tools and conservation analysis suggest that the p.Gln12522Lys variant may not impact the protein, though this i nformation is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Gln12522Lys variant is uncertain, these data suggest that it is more likely to be benign.
Revvity Omics, Revvity RCV003137565 SCV003824802 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing

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