ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2213A>G (p.His738Arg)

gnomAD frequency: 0.00001  dbSNP: rs528789050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609869 SCV000723615 likely benign not specified 2017-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001035650 SCV001198984 uncertain significance Intellectual disability, autosomal dominant 1 2022-08-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs528789050, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 738 of the MBD5 protein (p.His738Arg). This variant has not been reported in the literature in individuals affected with MBD5-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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 512606).

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