ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly)

gnomAD frequency: 0.00003  dbSNP: rs760722200
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216375 SCV000272586 uncertain significance not specified 2015-02-13 criteria provided, single submitter clinical testing The p.Ser4207Gly variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/60976 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computa tional prediction tools and conservation analysis suggest that the p.Ser4207Gly variant may not impact the protein, though this information is not predictive en ough to rule out pathogenicity. In summary, the clinical significance of the p.S er4207Gly variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000555646 SCV000642725 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-10 criteria provided, single submitter clinical testing
GeneDx RCV002464144 SCV002758977 uncertain significance not provided 2022-12-01 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
Fulgent Genetics, Fulgent Genetics RCV002494574 SCV002794309 uncertain significance 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 2021-08-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150112 SCV003838044 likely benign Cardiomyopathy 2023-03-17 criteria provided, single submitter clinical testing

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