ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92552T>G (p.Met30851Arg)

gnomAD frequency: 0.00001  dbSNP: rs1206527
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Total submissions: 4
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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 RCV001171251 SCV001333955 uncertain significance Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
GeneDx RCV001751301 SCV001997098 uncertain significance not provided 2019-12-26 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Located in the A-band of the titin protein, where the majority of pathogenic truncating variants have been reported; 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 RCV002491485 SCV002788281 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 2021-10-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001751301 SCV003822944 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing

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