Submissions for variant NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)

gnomAD frequency: 0.00013  dbSNP: rs375667028

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040718	SCV000064409	uncertain significance	not specified	2013-02-20	criteria provided, single submitter	clinical testing	The Arg26022Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory but has been identified in 1/8208 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide st rong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Arg26022Gln variant.
GeneDx	RCV000832933	SCV000974690	likely benign	not provided	2021-03-18	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000832933	SCV003824844	uncertain significance	not provided	2023-03-30	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486602	SCV004240144	likely benign	Cardiomyopathy	2023-01-18	criteria provided, single submitter	clinical testing