ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77035A>C (p.Asn25679His)

gnomAD frequency: 0.00003  dbSNP: rs770512378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204631 SCV000261736 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-10-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611101 SCV000731634 uncertain significance not specified 2017-05-09 criteria provided, single submitter clinical testing The p.Asn23111His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/125996 European chromosomes b y the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; db SNP rs770512378). This variant has been reported in ClinVar (Variation ID: 22085 3) as of uncertain significance. Please note that for diseases with clinical var iability, reduced penetrance, or recessive inheritance, pathogenic variants may be present at a low frequency in the general population. Computational predictio n tools and conservation analysis suggest that the p.Asn23111His variant may imp act the protein, though this information is not predictive enough to determine p athogenicity. In summary, the clinical significance of the p.Asn23111His variant is uncertain.
GeneDx RCV003324731 SCV004030992 uncertain significance not provided 2023-02-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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