ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.932A>C (p.Lys311Thr)

gnomAD frequency: 0.00001  dbSNP: rs200561241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307619 SCV000416689 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001344089 SCV001538125 uncertain significance Intellectual disability, autosomal dominant 1 2022-02-03 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 331332). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is present in population databases (rs200561241, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 311 of the MBD5 protein (p.Lys311Thr).

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