ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln)

gnomAD frequency: 0.00001  dbSNP: rs1298237270
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799185 SCV002042451 uncertain significance Cardiomyopathy 2021-03-17 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001810330 SCV002059402 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2019-02-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473299 SCV002770618 uncertain significance not provided 2022-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478029 SCV002780069 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 2021-10-05 criteria provided, single submitter clinical testing
GeneDx RCV002473299 SCV005442985 uncertain significance not provided 2024-07-03 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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