ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) (rs886041287)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000280520 SCV000329635 pathogenic not provided 2015-07-16 criteria provided, single submitter clinical testing The c.96096_96097dupCA variant in the TTN gene has not been reported previously as a disease-causing variant nor as a benign polymorphism, to our knowledge. The c.96096_96097dupCA variant causes a frameshift starting with codon Arginine 32033 changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 36 of the new reading frame, denoted p.Arg32033ThrfsX36. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is located within the region of the A-band where protein truncating pathogenic variants have been reported to be associated with TTN-related disorders. The c.96096_96097dupCA variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.96096_96097dupCA as a pathogenic variant.
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000584764 SCV000692556 likely pathogenic Congenital muscular dystrophy; Scoliosis; Broad-based gait; Delayed gross motor development; Distal muscle weakness; Gowers sign; Severe muscular hypotonia; Heart murmur 2016-02-19 criteria provided, single submitter clinical testing

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