ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del)

dbSNP: rs1554107128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641791 SCV000763440 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2019-02-14 criteria provided, single submitter clinical testing This variant, c.1976_1987delGAGAAAATGACA, results in the deletion of 4 amino acid(s) of the DSP protein (p.Arg659_Asp662del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV001176629 SCV001340665 uncertain significance Cardiomyopathy 2019-07-11 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of four amino acids of the DSP protein. To our knowledge, functional assays have not been performed for this variant. Computational splicing tools suggest that this variant may not impact RNA splicing. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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.
GeneDx RCV003328612 SCV004035520 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 4 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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