ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu)

gnomAD frequency: 0.00005  dbSNP: rs397517543
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040149 SCV000063840 uncertain significance not specified 2012-04-04 criteria provided, single submitter clinical testing The Lys9691Glu variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this va riant may not impact the protein, though this information is not predictive enou gh to rule out pathogenicity. Additional information is needed to fully assess t he clinical significance of the Lys9691Glu variant.
Eurofins Ntd Llc (ga) RCV000727136 SCV000706056 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000727136 SCV001993677 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not located in the A-band nor the M-line region of titin, where the majority of pathogenic truncating variants have been reported; This variant is associated with the following publications: (PMID: 27066507)
Fulgent Genetics, Fulgent Genetics RCV002483014 SCV002793259 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 2021-11-20 criteria provided, single submitter clinical testing

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