ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)

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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 RCV003056648 SCV003448302 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-10-19 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with DSP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 2767 of the DSP protein (p.Thr2767Ser).
Ambry Genetics RCV003171005 SCV003867583 uncertain significance Cardiovascular phenotype 2023-01-26 criteria provided, single submitter clinical testing The p.T2767S variant (also known as c.8300C>G), located in coding exon 24 of the DSP gene, results from a C to G substitution at nucleotide position 8300. The threonine at codon 2767 is replaced by serine, an amino acid with similar properties. This alteration has been reported in a pediatric cardiomyopathy cohort; however, clinical details were limited and additional alterations in other cardiac-related genes were identified (Herkert JC et al. Genet Med, 2018 Nov;20:1374-1386). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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