ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15716C>T (p.Thr5239Met)

gnomAD frequency: 0.00003  dbSNP: rs756844952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595362 SCV000708273 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483644 SCV002785930 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 2021-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000595362 SCV004025639 uncertain significance not provided 2023-02-07 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
Revvity Omics, Revvity RCV000595362 SCV004237453 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing

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