ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7685_7687del (p.Ser2562del)

dbSNP: rs762495630
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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 RCV001038838 SCV001202336 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-03-16 criteria provided, single submitter clinical testing This variant, c.7685_7687del, results in the deletion of 1 amino acid(s) of the DSP protein (p.Ser2562del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs762495630, gnomAD 0.006%). 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: 837491). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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 RCV001179418 SCV001344079 uncertain significance Cardiomyopathy 2023-04-25 criteria provided, single submitter clinical testing This variant causes a deletion of one amino acid at codon 2562 of the DSP protein. 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 4/251492 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.
All of Us Research Program, National Institutes of Health RCV004004722 SCV004829629 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-12-01 criteria provided, single submitter clinical testing This variant causes a deletion of one amino acid at codon 2562 of the DSP protein. 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 4/251492 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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