ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004314014 SCV003975034 uncertain significance Cardiovascular phenotype 2023-06-06 criteria provided, single submitter clinical testing The c.7456G>A (p.G2486S) alteration is located in exon 24 (coding exon 24) of the DSP gene. This alteration results from a G to A substitution at nucleotide position 7456, causing the glycine (G) at amino acid position 2486 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779970 SCV004582009 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2486 of the DSP protein (p.Gly2486Ser). 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. 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. ClinVar contains an entry for this variant (Variation ID: 2541899). 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).

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