ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys)

dbSNP: rs2105537073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765272 SCV001989793 uncertain significance not provided 2019-05-24 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002032839 SCV002297528 uncertain significance Intellectual disability, autosomal dominant 1 2021-08-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with cysteine at codon 24 of the MBD5 protein (p.Gly24Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine.

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