Submissions for variant NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)

gnomAD frequency: 0.00011  dbSNP: rs368439674

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000609021	SCV000710941	uncertain significance	not specified	2017-10-26	criteria provided, single submitter	clinical testing	The p.Arg26807Cys variant in TTN has not been previously reported in individuals with cardiomyopathy. It has been identified in 13/17114 East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs368439674). Computational prediction tools and conservation analysis do no t provide strong support for or against an impact to the protein. In summary, th e clinical significance of the p.Arg2680Cys variant is uncertain. ACMG/AMP Crit eria applied: none (Richards 2015).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000643199	SCV000764886	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-10-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001544870	SCV001764087	likely benign	not provided	2021-03-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358669	SCV002658002	uncertain significance	Cardiovascular phenotype	2018-12-26	criteria provided, single submitter	clinical testing	The p.R20310C variant (also known as c.60928C>T), located in coding exon 157 of the TTN gene, results from a C to T substitution at nucleotide position 60928. The arginine at codon 20310 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001544870	SCV003818430	uncertain significance	not provided	2020-11-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001544870	SCV001919021	uncertain significance	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001544870	SCV001963037	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001544870	SCV001975174	uncertain significance	not provided		no assertion criteria provided	clinical testing