ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.859A>G (p.Asn287Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005228528 SCV005863273 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-07-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 287 of the DSP protein (p.Asn287Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with DSP-related conditions (PMID: 27532257, 37652022). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Asn287 amino acid residue in DSP. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11841538, 25225338, 25765472). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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