Submissions for variant NM_001267550.2(TTN):c.78929C>T (p.Pro26310Leu)

gnomAD frequency: 0.00004  dbSNP: rs754702040

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000364361	SCV000345021	uncertain significance	not provided	2018-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000364361	SCV001471939	uncertain significance	not provided	2020-04-22	criteria provided, single submitter	clinical testing	The TTN c.78929C>T; p.Pro26310Leu variant (rs754702040; ClinVar Variation ID: 290460) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Pro26310Leu variant cannot be determined with certainty.
Revvity Omics, Revvity	RCV000364361	SCV003820199	uncertain significance	not provided	2021-12-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000364361	SCV004150271	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing	TTN: PM2