Table 1.
Variants identified in desmoplakin (DSP NM_004415) gene by next generation sequencing (NGS) analysis in probands.
| Patients | HGVSc | HGVSp | Exon | dbSNP | gnomAD | ACMG | ClinVar | Literature |
|---|---|---|---|---|---|---|---|---|
| 1 | c.6154C>T | p.Gln2052Ter | 24 | - | - | P | - | Novel |
| 2 | c.2497C>T | p.Gln833Ter | 18 | rs1561693779 | - | P | P | Novel |
| 3 | c.2848del | p.Ile950LeufsTer27 | 20 | rs397516927 | - | P | P | PMID: 25157032 |
| 4 | c. 1352G>C | p.Arg451Pro | 11 | - | - | LP | - | Novel |
| 5 | c.5851C>T | p.Arg1951Ter | 24 | rs869025395 | - | P | P/LP | PMID: 26899768 |
| 6 | c.3203_3204del | p.Glu1068ValfsTer19 | 23 | rs1285329067 | - | P | - | Novel |
| 7 | c.5210del | p.Gly1737AspfsTer 16 | 23 | rs1581819043 | - | P | P | Novel |
| 8 | c.170+2T>G | p.(?) | - | rs1581777867 | - | LP | - | Novel |
| 9 * | c.5210del | p.Gly1737AspfsTer 16 | 23 | rs1581819043 | - | P | P | Novel |
| 10 | c.3206_3207del | p.Cys1069PhefsTer 18 | 23 | - | - | LP | - | Novel |
| 11 | c.2506C>T | p.Gln836ter | 18 | - | - | LP | - | Novel |
| 12 | c.879_890dup | p.Glu293_Tyr296dup | 7 | - | - | LP | - | Novel |
| 13 | c.3724_3739del | p.Leu1242Glufs*3 | 23 | - | LP | - | Novel | |
| 14 | c.5601G>A | p.Trp1867ter | 24 | - | - | LP | - | Novel |
| 15 | c.1067C>A | p.Thr356Lys | 9 | rs780626687 | 1/ 251197 | LP | VUS | PMID: 25227139, 34352074 |
| 16 * | c.3932_3936del | p.Gln1311ProfsTer13 | 23 | - | - | LP | - | Novel |
| 17 | c.5851C>T | p.Arg1951Ter | 24 | rs869025395 | - | P | P/LP | PMID: 26899768 |
| 18 | c.816_817delinsAT | p.Gln273Ter | 7 | - | - | P | - | PMID: 24070718, 31402444 |
HGVSc: Human Genome Variation Society coding sequence name; HGVSp: Human Genome Variation Society protein sequence name; dbSNP: Single Nucleotide Polymorphism Database; gnomAD: Genomic Aggregation Database; ACMG: American College of Medical Genetics. P: Pathogenic; LP: Likely pathogenic. * Patient ID 9 and 16 carried also a heterozygous variant of uncertain significance (VoUS) in DSC2 gene (NM_024422).