ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2314A>C (p.Asn772His) (rs200151142)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153457 SCV000202964 likely benign not specified 2014-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000153457 SCV000241700 likely benign not specified 2017-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000474689 SCV000545121 uncertain significance Mental retardation, autosomal dominant 1 2016-12-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 772 of the MBD5 protein (p.Asn772His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is present in population databases (rs200151142, ExAC 0.003%) but has not been reported in the literature in individuals with an MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 167263). 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 histidine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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