ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3220G>A (p.Gly1074Ser) (rs150972614)

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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 RCV000716174 SCV000847011 likely benign History of neurodevelopmental disorder 2017-12-22 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance)
Invitae RCV001233823 SCV001406436 uncertain significance Mental retardation, autosomal dominant 1 2019-10-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1074 of the MBD5 protein (p.Gly1074Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs150972614, ExAC 0.04%). This variant has not been reported in the literature in individuals with MBD5-related disease. 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 serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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