ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)

gnomAD frequency: 0.00009  dbSNP: rs200100660
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Total submissions: 7
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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 RCV000152315 SCV000201197 uncertain significance not specified 2013-04-20 criteria provided, single submitter clinical testing The Arg15400His variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 3/8186 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs20010 0660). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. At this time, additional information is needed to fully a ssess the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000539449 SCV000643349 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727083 SCV000705498 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798482 SCV002042539 uncertain significance Cardiomyopathy 2020-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433666 SCV002744925 likely benign Cardiovascular phenotype 2020-08-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002483317 SCV002791198 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 2021-08-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000727083 SCV003822814 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing

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