ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1084G>A (p.Asp362Asn)

dbSNP: rs1335443686
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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 RCV001244205 SCV001417409 uncertain significance Intellectual disability, autosomal dominant 1 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 362 of the MBD5 protein (p.Asp362Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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).

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