ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1990A>G (p.Thr664Ala)

gnomAD frequency: 0.00001  dbSNP: rs142431261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309636 SCV001499142 uncertain significance Intellectual disability, autosomal dominant 1 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 664 of the MBD5 protein (p.Thr664Ala). This variant is present in population databases (rs142431261, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1011780). 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: "Benign"; Align-GVGD: "Class C55"). 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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