ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87781C>T (p.Pro29261Ser)

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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 RCV003340939 SCV004047812 uncertain significance Tibial muscular dystrophy criteria provided, single submitter clinical testing The missense variant c.87781C>T (p.Pro29261Ser) in TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro29261Ser variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Pro at position 29261 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance .

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