Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620317 | SCV000736981 | uncertain significance | Cardiovascular phenotype | 2016-02-12 | criteria provided, single submitter | clinical testing | The p.K1444N variant (also known as c.4332A>C), located in coding exon 23 of the DSP gene, results from an A to C substitution at nucleotide position 4332. The lysine at codon 1444 is replaced by asparagine, an amino acid with some similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. 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. |