ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys)

gnomAD frequency: 0.00001  dbSNP: rs534850589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002278925 SCV002567326 uncertain significance not provided 2022-02-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003096294 SCV003001259 uncertain significance Intellectual disability, autosomal dominant 1 2022-09-28 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is present in population databases (rs534850589, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1483 of the MBD5 protein (p.Arg1483Lys).

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