ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) (rs794729330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184319 SCV000236944 pathogenic not provided 2014-06-03 criteria provided, single submitter clinical testing c.59757dupC: p.Gly19920ArgfsX8 (G19920RfsX8) in exon 260 of the TTN gene (NM_001256850.1). The normal sequence with the bases that are duplicated in braces is: CCCC{C}GGCC. The c.59757dupC mutation in the TTN gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. c.59757dupC causes a shift in reading frame starting at codon Glycine 19920, changing it to an Arginine, and creating a premature stop codon at position 8 of the new reading frame, denoted p.Gly19920ArgfsX8. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other truncating TTN variants have been reported in approximately 3% of control alleles (Herman D et al., 2012). However, c.59757dupC is located in the A-band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman D et al., 2012). In summary, c.59757dupC in the TTN gene is interpreted as a disease-causing mutation. The variant is found in DCM-CRDM panel(s).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000184319 SCV000341919 likely pathogenic not provided 2016-05-12 criteria provided, single submitter clinical testing

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