ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1952A>G (p.His651Arg)

dbSNP: rs1759065265
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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 RCV001183328 SCV001349041 uncertain significance Cardiomyopathy 2023-05-11 criteria provided, single submitter clinical testing This missense variant replaces histidine with arginine at codon 651 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 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.
All of Us Research Program, National Institutes of Health RCV004008372 SCV004828328 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-05-30 criteria provided, single submitter clinical testing This missense variant replaces histidine with arginine at codon 651 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 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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