Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181303 | SCV000233594 | uncertain significance | not provided | 2023-05-24 | criteria provided, single submitter | clinical testing | Identified in a patient with DCM in published literature (Pena-Pena et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32826072) |
Labcorp Genetics |
RCV000535270 | SCV000641297 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-12-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617477 | SCV000737910 | uncertain significance | Cardiovascular phenotype | 2024-03-20 | criteria provided, single submitter | clinical testing | The p.I874M variant (also known as c.2622C>G), located in coding exon 18 of the DSP gene, results from a C to G substitution at nucleotide position 2622. The isoleucine at codon 874 is replaced by methionine, an amino acid with highly similar properties. This variant has been reported in association with dilated cardiomyopathy (DCM) (Peña-Peña ML et al. Med Clin (Barc), 2021 May;156:485-495). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769222 | SCV000900598 | uncertain significance | Cardiomyopathy | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769222 | SCV000904672 | uncertain significance | Cardiomyopathy | 2024-03-06 | criteria provided, single submitter | clinical testing | This missense variant replaces isoleucine with methionine at codon 874 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 cardiovascular disorders in the literature. This variant has been identified in 12/282506 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. |
Fulgent Genetics, |
RCV002485190 | SCV002800820 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2021-10-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996648 | SCV004819682 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2024-09-23 | criteria provided, single submitter | clinical testing | This missense variant replaces isoleucine with methionine at codon 874 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 cardiovascular disorders in the literature. This variant has been identified in 12/282506 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. |