ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)

dbSNP: rs149061352
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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 RCV000155015 SCV000204698 uncertain significance not specified 2014-04-16 criteria provided, single submitter clinical testing The Thr799Met variant in TTN has not been reported in individuals with cardiomyo pathy, but has been identified in 1/8600 of European American chromosomes and 1/ 4406 of African American chromosomes by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/; dbSNP rs149061352). Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. Additional information is needed to fully assess the clinica l significance of the Thr799Met variant.
Invitae RCV000550907 SCV000642846 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727539 SCV000709577 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293183 SCV001434181 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
GeneDx RCV000727539 SCV001767850 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17344846)
Ambry Genetics RCV002444639 SCV002733340 likely benign Cardiovascular phenotype 2020-03-06 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.
Revvity Omics, Revvity RCV000727539 SCV003827232 uncertain significance not provided 2020-09-09 criteria provided, single submitter clinical testing

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