ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4133A>G (p.His1378Arg)

gnomAD frequency: 0.00001  dbSNP: rs760629404
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028634 SCV002282318 uncertain significance Intellectual disability, autosomal dominant 1 2021-07-28 criteria provided, single submitter clinical testing 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 C25"). 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. This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is present in population databases (rs760629404, ExAC 0.01%). This sequence change replaces histidine with arginine at codon 1145 of the MBD5 protein (p.His1145Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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