Submissions for variant NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile)

gnomAD frequency: 0.00002  dbSNP: rs727503551

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152197	SCV000200950	uncertain significance	not specified	2013-08-15	criteria provided, single submitter	clinical testing	The Val26701Ile variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of the Val26701Ile variant.
GeneDx	RCV000828891	SCV000970595	likely benign	not provided	2018-05-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Revvity Omics, Revvity	RCV000828891	SCV003822221	uncertain significance	not provided	2019-10-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000828891	SCV001921923	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000828891	SCV001974717	uncertain significance	not provided		no assertion criteria provided	clinical testing