ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92383G>A (p.Val30795Ile)

gnomAD frequency: 0.00001  dbSNP: rs369025866
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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 RCV000154894 SCV000204576 uncertain significance not specified 2013-12-26 criteria provided, single submitter clinical testing The Val28227Ile in TTN has not been previously reported in individuals with card iomyopathy, but has been identified in 2/8338 European American chromosomes by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbSNP rs3690258 66). Computational analyses (biochemical amino acid properties, conservation, Al ignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an im pact to the protein. Additional information is needed to fully assess the clinic al significance of this variant.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154894 SCV003934121 uncertain significance not specified 2023-05-22 criteria provided, single submitter clinical testing

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