ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337916 SCV004048342 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J criteria provided, single submitter clinical testing The frameshift variant c.100881_100882del (p.Glu33627AspfsTer30) in TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu33627AspfsTer30 variant is novel (not in any individuals) in 1000 Genomes and is present in the gnomAD exomes database with a frequency of 0.0004%. Null variant (frame-shift), in gene TTN for which loss-of-function is a known mechanism of disease. This variant causes a frameshift starting with codon Glutamic Acid 33627, changes this amino acid to Aspartic Acid residue, and creates a premature Stop codon at position 30 of the new reading frame, denoted p.Glu33627AspfsTer30. For these reasons, this variant has been classified as Likely Pathogenic

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