ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.859A>C (p.Asn287His)

dbSNP: rs1554106503
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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 RCV000538707 SCV000641360 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-07-21 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 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, 27532257). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 465917). This variant has been observed in individual(s) with dilated cardiomyopathy (PMID: 31983221). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with histidine at codon 287 of the DSP protein (p.Asn287His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine.

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