ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)

gnomAD frequency: 0.00008  dbSNP: rs727504520
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Total submissions: 5
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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 RCV000155667 SCV000205376 uncertain significance not specified 2013-04-12 criteria provided, single submitter clinical testing The Gln20131His variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, PolyPhen2, and SIFT) are uninformative. Additio nal information is needed to fully assess the clinical significance of this vari ant.
Invitae RCV000643666 SCV000765353 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714077 SCV000844744 uncertain significance not provided 2018-03-26 criteria provided, single submitter clinical testing
GeneDx RCV000714077 SCV001764511 likely benign not provided 2019-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221, 26573135)
Revvity Omics, Revvity RCV000714077 SCV003824222 uncertain significance not provided 2019-08-07 criteria provided, single submitter clinical testing

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