ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg)

gnomAD frequency: 0.00003  dbSNP: rs184415910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815700 SCV000956165 uncertain significance Intellectual disability, autosomal dominant 1 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 848 of the MBD5 protein (p.Ile848Arg). This variant is present in population databases (rs184415910, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 658811). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MBD5 protein function with a negative predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV001200138 SCV001371018 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MBD5: BP4
Genetic Services Laboratory, University of Chicago RCV001816895 SCV002072233 likely benign not specified 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534876 SCV003657165 likely benign Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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