Submissions for variant NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)

dbSNP: rs191057824

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039956	SCV000063647	uncertain significance	not specified	2012-04-20	criteria provided, single submitter	clinical testing	The Ser59Arg variant (TTN) has not been reported in the literature nor previousl y identified by our laboratory. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. Additional information is needed to fully assess the cli nical significance of the Ser59Arg variant.
Athena Diagnostics Inc	RCV000039956	SCV000616009	uncertain significance	not specified	2016-08-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727159	SCV000706208	uncertain significance	not provided	2017-02-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617724	SCV000736018	uncertain significance	Cardiovascular phenotype	2018-09-24	criteria provided, single submitter	clinical testing	The p.S59R variant (also known as c.177C>A), located in coding exon 2 of the TTN gene, results from a C to A substitution at nucleotide position 177. The serine at codon 59 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly 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.
GeneDx	RCV000727159	SCV001751637	likely benign	not provided	2020-06-10	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000727159	SCV003821758	uncertain significance	not provided	2019-12-19	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000727159	SCV001740884	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000727159	SCV001918204	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727159	SCV001969893	uncertain significance	not provided		no assertion criteria provided	clinical testing