ClinVar Miner

Submissions for variant NM_001276270.2(MBD4):c.336C>T (p.Ser112=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002907699 SCV003244440 uncertain significance not provided 2025-02-04 criteria provided, single submitter clinical testing This sequence change affects codon 112 of the MBD4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MBD4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs61753468, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with MBD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 2038734). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
CeGaT Center for Human Genetics Tuebingen RCV002907699 SCV004155503 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing MBD4: BP4, BP7
Ambry Genetics RCV004983167 SCV005618021 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.336C>T variant (also known as p.S112S), located in coding exon 3 of the MBD4 gene, results from a C to T substitution at nucleotide position 336. This nucleotide substitution does not change the amino acid at codon 112. This variant impacts the first base pair of coding exon 3. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV003961152 SCV004770698 likely benign MBD4-related disorder 2019-02-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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