ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4597G>A (p.Gly1533Arg)

gnomAD frequency: 0.00001  dbSNP: rs747948310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591907 SCV000708991 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003495161 SCV004277688 uncertain significance Intellectual disability, autosomal dominant 1 2022-12-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is present in population databases (rs747948310, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1300 of the MBD5 protein (p.Gly1300Arg). ClinVar contains an entry for this variant (Variation ID: 502311). 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: "Not Available"; Align-GVGD: "Class C65").

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