ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002367328 SCV002664127 uncertain significance Inborn genetic diseases 2019-05-14 criteria provided, single submitter clinical testing The p.K413E variant (also known as c.1237A>G), located in coding exon 4 of the MBD5 gene, results from an A to G substitution at nucleotide position 1237. The lysine at codon 413 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103362 SCV003459053 uncertain significance Intellectual disability, autosomal dominant 1 2023-06-21 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MBD5 protein function. ClinVar contains an entry for this variant (Variation ID: 1757143). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 413 of the MBD5 protein (p.Lys413Glu).

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