Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154707 | SCV000204386 | likely benign | not specified | 2020-08-06 | criteria provided, single submitter | clinical testing | The p.Glu215Lys variant in DSP is classified as likely benign because it has been identified in 0.05% (6/10366) of Ashkenazi Jewish and 0.02% (7/35438) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BS1. |
Invitae | RCV000466856 | SCV000543239 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000776301 | SCV000911602 | uncertain significance | Cardiomyopathy | 2023-05-12 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with lysine at codon 215 of the DSP protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy and in another individual affected with idiopathic ventricular tachycardia (PMID: 32880476, 33552729). This variant has been identified in 19/282798 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. |
Gene |
RCV001576627 | SCV001803856 | uncertain significance | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 178024; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 32880476, 27535533) |