ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)

gnomAD frequency: 0.00003  dbSNP: rs542074139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224727 SCV002502801 likely pathogenic not provided 2021-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496166 SCV002788056 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-11-06 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003339936 SCV004048077 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J criteria provided, single submitter clinical testing The stop gained variant c.77185A>T (p.Lys25729Ter) in TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is present in the gnomAD exomes database with a frequency of 0.003%. The nucleotide change in TTN is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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