ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter)

gnomAD frequency: 0.00001  dbSNP: rs369482721
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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 RCV001191443 SCV001359264 uncertain significance Cardiomyopathy 2019-06-01 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in the last exon 24 of the DSP gene, creating a premature translation stop signal. This variant is expected to result in an absent or truncated protein product lacking the last 538 amino acids. To our knowledge, functional assays have not been performed for this variant nor has this variant 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.
Invitae RCV002560978 SCV003221058 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2334*) in the DSP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 538 amino acid(s) of the DSP protein. This variant is present in population databases (rs369482721, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 927872). This variant disrupts a region of the DSP protein in which other variant(s) (p.Glu2728Glyfs*11) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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