ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg)

gnomAD frequency: 0.00026  dbSNP: rs368297438
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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 RCV000040066 SCV000063757 uncertain significance not specified 2012-05-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Gln7954Arg vari ant (TTN) has been identified in 0.1% (4/3060) of African American chromosomes b y the NHLBI Exome Sequencing Project in a broad population (http://evs.gs.washin gton.edu/EVS). Computational analyses (biochemical amino acid properties, conser vation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or aga inst an impact to the normal function of the protein. While the observed frequen cy suggests that this variant is more likely to be benign, it is too low to conf idently rule out a disease causing role. Additional information is needed to ful ly assess its clinical significance.
Eurofins Ntd Llc (ga) RCV000726525 SCV000345234 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550845 SCV000642906 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798140 SCV002042420 likely benign Cardiomyopathy 2019-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025093 SCV005655289 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 2024-01-17 criteria provided, single submitter clinical testing

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