ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7735G>C (p.Asp2579His)

dbSNP: rs750744914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023941 SCV002307594 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 2579 of the DSP protein (p.Asp2579His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with sudden unexplained death (PMID: 26585738). 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 C15"). 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.
PreventionGenetics, part of Exact Sciences RCV003911158 SCV004720612 uncertain significance DSP-related disorder 2023-12-04 no assertion criteria provided clinical testing The DSP c.7735G>C variant is predicted to result in the amino acid substitution p.Asp2579His. This variant was reported in a case of sudden unexplained nocturnal death syndrome (Zhao et al. 2016. PubMed ID: 26585738). This variant has not been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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