ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1016C>T (p.Pro339Leu)

dbSNP: rs748307129
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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 RCV001039585 SCV001203119 uncertain significance Intellectual disability, autosomal dominant 1 2023-04-25 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 838102). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is present in population databases (rs748307129, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 339 of the MBD5 protein (p.Pro339Leu). 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.

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