ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2825C>T (p.Thr942Ile)

dbSNP: rs771429752
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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 RCV001067067 SCV001232099 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-02-21 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 860704). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs771429752, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 942 of the DSG2 protein (p.Thr942Ile).
All of Us Research Program, National Institutes of Health RCV004000166 SCV004826126 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-08-08 criteria provided, single submitter clinical testing This missense variant replaces threonine with isoleucine at codon 942 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with possible arrhythmogenic cardiomyopathy (PMID: 33652588). This variant has been identified in 1/248492 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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