ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68654C>T (p.Ser22885Leu)

dbSNP: rs376574861
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Total submissions: 1
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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 RCV000152237 SCV000201037 uncertain significance not specified 2013-04-05 criteria provided, single submitter clinical testing The Ser20317Leu variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 1/3838 African American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemical amino acid properties, AlignGVGD, and SIFT) do not provide strong support for or against an impact to the protein. Additional studies are needed to fully assess the clinical significance of this variant.

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