ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6765G>T (p.Gln2255His)

dbSNP: rs766183320
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459004 SCV000543264 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 2255 of the DSP protein (p.Gln2255His). This variant is present in population databases (rs766183320, gnomAD 0.01%). 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: 405245). 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. 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.
All of Us Research Program, National Institutes of Health RCV004000647 SCV004830364 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619293 SCV005117214 uncertain significance Cardiovascular phenotype 2024-05-07 criteria provided, single submitter clinical testing The p.Q2255H variant (also known as c.6765G>T), located in coding exon 24 of the DSP gene, results from a G to T substitution at nucleotide position 6765. The glutamine at codon 2255 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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