ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.536T>C (p.Met179Thr)

gnomAD frequency: 0.00001  dbSNP: rs753854046
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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 RCV000555971 SCV000641991 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-07-07 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. 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. ClinVar contains an entry for this variant (Variation ID: 466346). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs753854046, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 179 of the DSG2 protein (p.Met179Thr).
Color Diagnostics, LLC DBA Color Health RCV001182168 SCV001347523 uncertain significance Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999240 SCV004819452 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-04-27 criteria provided, single submitter clinical testing

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