ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7162G>A (p.Val2388Ile)

gnomAD frequency: 0.00001  dbSNP: rs370490538
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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 RCV001191565 SCV001359429 uncertain significance Cardiomyopathy 2023-04-25 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 2388 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual with suspected Brugada syndrome (PMID: 28087566). This variant has been identified in 2/282826 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 RCV002560121 SCV003501804 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-11-23 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs370490538, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2388 of the DSP protein (p.Val2388Ile). ClinVar contains an entry for this variant (Variation ID: 927970). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DSP-related conditions.
All of Us Research Program, National Institutes of Health RCV004010523 SCV004823447 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 2388 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual with suspected Brugada syndrome (PMID: 28087566). This variant has been identified in 2/282826 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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