ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1634C>G (p.Ser545Cys)

dbSNP: rs1553518618
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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 RCV000645271 SCV000767013 uncertain significance Intellectual disability, autosomal dominant 1 2017-12-18 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 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 545 of the MBD5 protein (p.Ser545Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine.

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