ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)

gnomAD frequency: 0.00003  dbSNP: rs746667196
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001527342 SCV001738313 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016) 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 RCV002495849 SCV002794284 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 2021-08-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001527342 SCV003825595 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331177 SCV004038659 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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