Submissions for variant NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg)

gnomAD frequency: 0.00001  dbSNP: rs757129504

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727811	SCV000855230	uncertain significance	not provided	2018-06-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002360850	SCV002665456	uncertain significance	Cardiovascular phenotype	2018-07-08	criteria provided, single submitter	clinical testing	The p.S22807R variant (also known as c.68421C>A), located in coding exon 171 of the TTN gene, results from a C to A substitution at nucleotide position 68421. The serine at codon 22807 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be benign and tolerated by PolyPhen and Swift in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV002493305	SCV002780814	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	2021-10-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000727811	SCV003822230	uncertain significance	not provided	2019-06-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727811	SCV004150219	uncertain significance	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TTN: PM2, BP4