ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)

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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 RCV002400891 SCV002706459 uncertain significance Inborn genetic diseases 2019-09-20 criteria provided, single submitter clinical testing The p.S537G variant (also known as c.1609A>G), located in coding exon 4 of the MBD5 gene, results from an A to G substitution at nucleotide position 1609. The serine at codon 537 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096999 SCV003283245 uncertain significance Intellectual disability, autosomal dominant 1 2022-01-02 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 537 of the MBD5 protein (p.Ser537Gly).

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