ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4696CTGCAG[1] (p.1566LQ[1])

dbSNP: rs1379223945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181666 SCV001346860 uncertain significance Cardiomyopathy 2023-07-07 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of two amino acids in the DSP protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with hypertrophic cardiomyopathy and dilated cardiomyopathy (PMID: 30165862). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002224001 SCV002502014 uncertain significance not provided 2022-02-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006755 SCV004827251 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-11-20 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of two amino acids in the DSP protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with hypertrophic cardiomyopathy and dilated cardiomyopathy (PMID: 30165862). 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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