ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2278C>T (p.His760Tyr)

dbSNP: rs1060501150
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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 RCV000456581 SCV000545110 uncertain significance Intellectual disability, autosomal dominant 1 2016-12-12 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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: "Benign"; Align-GVGD: "Class C65"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MBD5-related disease. This sequence change replaces histidine with tyrosine at codon 760 of the MBD5 protein (p.His760Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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