ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.413T>C (p.Val138Ala)

dbSNP: rs2105622190
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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 RCV001874484 SCV002128676 uncertain significance Intellectual disability, autosomal dominant 1 2021-02-01 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 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"). This variant has not been reported in the literature in individuals with MBD5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 138 of the MBD5 protein (p.Val138Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.

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