ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe)

dbSNP: rs116207524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997214 SCV001152418 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001234149 SCV001406779 uncertain significance Intellectual disability, autosomal dominant 1 2022-09-07 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 808810). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is present in population databases (rs116207524, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 869 of the MBD5 protein (p.Val869Phe).

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