ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.919C>G (p.Leu307Val)

gnomAD frequency: 0.00002  dbSNP: rs1052070604
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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 RCV000618954 SCV000736717 uncertain significance Cardiovascular phenotype 2016-11-22 criteria provided, single submitter clinical testing The p.L307V variant (also known as c.919C>G), located in coding exon 8 of the DSG2 gene, results from a C to G substitution at nucleotide position 919. The leucine at codon 307 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 5980 samples (11960 alleles) with coverage at this position. This amino acid position is highly 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 RCV001300002 SCV001489124 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-06-23 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: 518957). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 307 of the DSG2 protein (p.Leu307Val).
Fulgent Genetics, Fulgent Genetics RCV002491317 SCV002797732 uncertain significance Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-08-19 criteria provided, single submitter clinical testing

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