Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038005 | SCV000061671 | uncertain significance | not specified | 2012-03-15 | criteria provided, single submitter | clinical testing | The Val712Met variant in DSP has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is need ed to fully assess the clinical significance of the Val712Met variant. |
Invitae | RCV000641779 | SCV000763428 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508542 | SCV001714766 | uncertain significance | not provided | 2021-03-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038005 | SCV002103747 | uncertain significance | not specified | 2022-02-05 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224122 | SCV003919895 | 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 | 2021-03-30 | criteria provided, single submitter | clinical testing | DSP NM_004415.3 exon 16 p.Val712Met (c.2134G>A): This variant has not been reported in the literature and is present in 0.02% (6/24970) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/6-7574322-G-A). This variant is present in ClinVar (Variation ID:44871). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV003415775 | SCV004113701 | uncertain significance | DSP-related condition | 2022-11-17 | criteria provided, single submitter | clinical testing | The DSP c.2134G>A variant is predicted to result in the amino acid substitution p.Val712Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-7574322-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |