ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln)

gnomAD frequency: 0.00009  dbSNP: rs727504757
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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 RCV000156065 SCV000205778 uncertain significance not specified 2013-09-04 criteria provided, single submitter clinical testing The Arg9220Gln variant in TTN has not been reported in any other families with c ardiomyopathy and data from large population studies is insufficient to assess t he frequency of this variant. Computational analyses are limited or unavailable for this variant. Additional information is needed to fully assess the clinical significance of the Arg9220Gln variant.
Invitae RCV000467721 SCV000542813 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726950 SCV000704403 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478461 SCV002782089 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 2021-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726950 SCV003827884 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing

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