ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63800C>T (p.Pro21267Leu)

gnomAD frequency: 0.00006  dbSNP: rs200365508
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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 RCV000152259 SCV000201091 uncertain significance not specified 2013-04-12 criteria provided, single submitter clinical testing The Pro18699Leu variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 3/3726 African American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs200365 508). Computational analyses (biochemical amino acid properties, conservation, A lignGVGD, PolyPhen2, and SIFT) suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional information is needed to fully assess the clinical signific ance of this variant.
Eurofins Ntd Llc (ga) RCV000734115 SCV000862231 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing

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