ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn)

gnomAD frequency: 0.00001  dbSNP: rs779129603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179369 SCV001344020 uncertain significance Cardiomyopathy 2023-09-20 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 2081 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 3/282540 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.
Invitae RCV001239254 SCV001412112 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-22 criteria provided, single submitter clinical testing

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