Submissions for variant NM_001267550.2(TTN):c.6314C>G (p.Pro2105Arg)

gnomAD frequency: 0.00001  dbSNP: rs547169244

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000621732	SCV000735780	uncertain significance	Cardiovascular phenotype	2017-05-24	criteria provided, single submitter	clinical testing	The p.P2059R variant (also known as c.6176C>G), located in coding exon 26 of the TTN gene, results from a C to G substitution at nucleotide position 6176. The proline at codon 2059 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
AiLife Diagnostics, AiLife Diagnostics	RCV002223880	SCV002503229	uncertain significance	not provided	2021-12-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002491313	SCV002780239	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	2021-07-20	criteria provided, single submitter	clinical testing