ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile)

dbSNP: rs1567931587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770553 SCV000902001 uncertain significance Cardiomyopathy 2015-12-10 criteria provided, single submitter clinical testing
Invitae RCV003768316 SCV004678215 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 553 of the DSG2 protein (p.Ser553Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 626839). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DSG2 protein function. 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.

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