ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)

gnomAD frequency: 0.00048  dbSNP: rs72646822
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727052 SCV000237318 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222884 SCV000272691 uncertain significance not specified 2015-11-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg15905Gly v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.2% (23/9766) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72646822) . Computational prediction tools and conservation analysis suggest that the p.Ar g15905Gly variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, while the clinical significan ce of the p.Arg15905Gly variant is uncertain, its frequency suggests that it is more likely to be benign.
Invitae RCV001086041 SCV000643380 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727052 SCV000705221 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433829 SCV002752544 likely benign Cardiovascular phenotype 2018-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000727052 SCV003824075 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing

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