Submissions for variant NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile)

gnomAD frequency: 0.00002  dbSNP: rs367769671

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756852	SCV000884804	uncertain significance	not specified	2018-09-28	criteria provided, single submitter	clinical testing	The TTN: p.Val13548Ile variant is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and have 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. While the clinical significance of such variants is considered uncertain, evidence suggests that the vast majority of missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the clinical significance of the p.Arg13618Leu and p.Ala7671Gly variants cannot be determined with certainty.
Fulgent Genetics, Fulgent Genetics	RCV002507326	SCV002816403	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	2021-10-06	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003141737	SCV003821013	uncertain significance	not provided	2022-12-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150340	SCV003838613	uncertain significance	Cardiomyopathy	2021-09-27	criteria provided, single submitter	clinical testing