ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30455G>A (p.Arg10152Gln)

dbSNP: rs375796685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728237 SCV000855783 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000728237 SCV002552676 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing Reported in a patient with BannayanRileyRuvalcaba syndrome who also harbored an additional missense variant in the TTN gene (Yehia et al., 2017); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29263846)
Fulgent Genetics, Fulgent Genetics RCV002507283 SCV002812773 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 2021-08-23 criteria provided, single submitter clinical testing

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