ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1045-3C>T

gnomAD frequency: 0.00001  dbSNP: rs765077011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191266 SCV001359015 uncertain significance Cardiomyopathy 2023-03-31 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the -3 position of intron 8 of the DSP gene. Splice site prediction tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. 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 been identified in 3/251110 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001242285 SCV001415359 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-12-21 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the DSP gene. It does not directly change the encoded amino acid sequence of the DSP protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs765077011, gnomAD 0.003%). 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: 927776). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
GeneDx RCV001619897 SCV001843156 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010500 SCV004833044 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-05-04 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the -3 position of intron 8 of the DSP gene. Splice site prediction tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. 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 been identified in 3/251110 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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