ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8553C>T (p.Asp2851=)

dbSNP: rs1554109307
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Total submissions: 3
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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 RCV000606781 SCV000712880 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing p.Asp2851Asp in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001441035 SCV001643952 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2019-11-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002484 SCV004826090 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-11-30 criteria provided, single submitter clinical testing This variant is located in the DSP protein. 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 not been identified 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.

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