ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.8G>T (p.Gly3Val)

dbSNP: rs794727807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179501 SCV000231758 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517752 SCV002977448 uncertain significance Intellectual disability, autosomal dominant 1 2022-10-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MBD5 protein function. ClinVar contains an entry for this variant (Variation ID: 198229). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3 of the MBD5 protein (p.Gly3Val).

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