ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys)

gnomAD frequency: 0.00001  dbSNP: rs397517747
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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 RCV000040764 SCV000064455 uncertain significance not specified 2012-10-24 criteria provided, single submitter clinical testing The Arg27467Cys variant in TTN has not been reported in the literature, but has been identified by our laboratory in 1 individual with infantile LVNC. In additi on, this variant has also not been identified in large and broad European Americ an and African American populations by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS). The affected amino acid is not well conserved in e volution, suggesting that a change to this position may have a weaker effect or be tolerated. Other computational analyses (biochemical amino acid properties, c onservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for o r against an impact to the protein. Additional information is needed to fully as sess the clinical significance of the Arg27467Cys variant.
Invitae RCV000464080 SCV000542675 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490569 SCV002775884 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 2021-07-14 criteria provided, single submitter clinical testing

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