ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.86T>C (p.Leu29Ser)

gnomAD frequency: 0.00002  dbSNP: rs786205361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171896 SCV000054845 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001852086 SCV002267790 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 29 of the DSG2 protein (p.Leu29Ser). This variant is present in population databases (rs786205361, gnomAD 0.008%). 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: 191625). 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 with a negative predictive value of 95%. 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.
Ambry Genetics RCV002372071 SCV002685235 likely benign Cardiovascular phenotype 2023-08-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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