Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000246912 | SCV000318950 | uncertain significance | Cardiovascular phenotype | 2013-09-12 | criteria provided, single submitter | clinical testing | The p.N5853K variant (also known as c.17559T>A) is located in coding exon 69 of the TTN gene. This alteration results from a T to A substitution at nucleotide position 17559. The asparagine at codon 5853 is replaced by lysine, an amino acid with a few similar properties. This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 6140 samples (12280 alleles) with coverage at this position. Based on protein sequence alignment, this amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging by PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Eurofins Ntd Llc |
RCV000355863 | SCV000332867 | uncertain significance | not provided | 2015-07-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000468792 | SCV000542461 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-26 | criteria provided, single submitter | clinical testing |