ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41342G>A (p.Arg13781His)

gnomAD frequency: 0.00001  dbSNP: rs370878642
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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 RCV000152355 SCV000201274 uncertain significance not specified 2013-12-05 criteria provided, single submitter clinical testing The Arg11213His variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 0.01% (1/8208) of European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Co mputational analyses (biochemical amino acid properties, conservation, AlignGVGD , PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical sign ificance of the Arg11213His variant.
Invitae RCV000643521 SCV000765208 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-18 criteria provided, single submitter clinical testing
GeneDx RCV003114300 SCV003798891 uncertain significance not provided 2023-02-01 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 RCV003114300 SCV003819135 uncertain significance not provided 2020-10-05 criteria provided, single submitter clinical testing

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