Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001053963 | SCV001218253 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2020-06-05 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DSP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 1370 of the DSP protein (p.Ile1370Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine. |
| Ambry Genetics | RCV002320297 | SCV002628017 | uncertain significance | Cardiovascular phenotype | 2022-08-16 | criteria provided, single submitter | clinical testing | The p.I1370N variant (also known as c.4109T>A), located in coding exon 23 of the DSP gene, results from a T to A substitution at nucleotide position 4109. The isoleucine at codon 1370 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |