ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.57A>G (p.Ile19Met)

gnomAD frequency: 0.00001  dbSNP: rs757256547
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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 RCV001358921 SCV001554778 uncertain significance Intellectual disability, autosomal dominant 1 2023-08-10 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. This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 19 of the MBD5 protein (p.Ile19Met). This variant is present in population databases (rs757256547, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1050948). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MBD5 protein function.

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