ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2134G>A (p.Val712Met)

gnomAD frequency: 0.00012  dbSNP: rs397516922
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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, Mayo Clinic RCV001508542 SCV001714766 uncertain significance not provided 2021-03-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038005 SCV002103747 uncertain significance not specified 2022-02-05 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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.
PreventionGenetics, part of Exact Sciences 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.

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