ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95669G>T (p.Gly31890Val)

gnomAD frequency: 0.00001  dbSNP: rs763832653
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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 RCV000825480 SCV000966783 uncertain significance not specified 2018-06-04 criteria provided, single submitter clinical testing The p.Gly29322Val variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 3/17218 East Asian chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs763832653). Computational prediction tools and conservation analysis sugges t that the p.Gly29322Val variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical s ignificance of the p.Gly29322Val variant is uncertain. ACMG/AMP Criteria applied : PM2_Supporting, PP3.

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