ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90535C>G (p.Arg30179Gly)

dbSNP: rs769360937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714113 SCV000844788 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485798 SCV002792064 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 2022-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000714113 SCV004034812 uncertain significance not provided 2023-03-06 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; Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (Herman et al., 2012)

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