ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2881C>T (p.Leu961Phe)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002437807 SCV002747114 uncertain significance Cardiovascular phenotype 2018-05-06 criteria provided, single submitter clinical testing The p.L961F variant (also known as c.2881C>T), located in coding exon 15 of the DSG2 gene, results from a C to T substitution at nucleotide position 2881. The leucine at codon 961 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102824 SCV003471459 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 961 of the DSG2 protein (p.Leu961Phe). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0").
All of Us Research Program, National Institutes of Health RCV004007456 SCV004827496 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-05-31 criteria provided, single submitter clinical testing

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