ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln)

gnomAD frequency: 0.00005  dbSNP: rs199642423
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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 RCV000154872 SCV000204554 uncertain significance not specified 2019-01-18 criteria provided, single submitter clinical testing The p.Arg32069Gln variant in TTN has not been reported in individuals with cardiomyopathy, but has been identified in 3/3846 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs199642423). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of this variant.
Eurofins Ntd Llc (ga) RCV000734113 SCV000862229 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483344 SCV002788332 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 2021-09-30 criteria provided, single submitter clinical testing

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