ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg)

gnomAD frequency: 0.00003  dbSNP: rs727503676
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Total submissions: 3
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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 RCV000152472 SCV000201589 uncertain significance not specified 2013-05-01 criteria provided, single submitter clinical testing The Gln3390Arg variant in TTN has not been reported in individuals with cardiomy opathy. Data from large population studies is insufficient to assess the frequen cy of this variant. Computational analyses are also limited for this variant. Ad ditional information is needed to fully assess the clinical significance of this variant.
GeneDx RCV001550223 SCV001770519 likely benign not provided 2019-11-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895047 SCV004713366 likely benign TTN-related condition 2023-02-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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