ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4019G>A (p.Arg1340His)

gnomAD frequency: 0.00003  dbSNP: rs765247380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689850 SCV000817519 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532231 SCV004363384 uncertain significance Cardiomyopathy 2023-02-10 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 1340 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 been reported in an individual affected with cardiomyopathy (PMID: 30847666). This variant has been identified in 5/282030 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.

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