ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu)

gnomAD frequency: 0.00006  dbSNP: rs142108986
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232836 SCV000286955 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-03-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728833 SCV000856450 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764301 SCV000895320 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 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000728833 SCV003820187 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000728833 SCV005396584 uncertain significance not provided 2024-05-08 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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