Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001184417 | SCV001350385 | uncertain significance | Cardiomyopathy | 2023-04-05 | criteria provided, single submitter | clinical testing | This missense variant replaces serine with proline at codon 1546 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has been identified in 1/250090 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV002560855 | SCV003595121 | uncertain significance | Inborn genetic diseases | 2021-11-09 | criteria provided, single submitter | clinical testing | The c.4636T>C (p.S1546P) alteration is located in exon 23 (coding exon 23) of the DSP gene. This alteration results from a T to C substitution at nucleotide position 4636, causing the serine (S) at amino acid position 1546 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |