ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.888C>G (p.Val296=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003679340 SCV004400483 uncertain significance not provided 2023-01-31 criteria provided, single submitter clinical testing This sequence change affects codon 296 of the MAFB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MAFB protein. This variant is present in population databases (rs767065484, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MAFB-related conditions. 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.
PreventionGenetics, part of Exact Sciences RCV003909071 SCV004725187 likely benign MAFB-related disorder 2021-06-23 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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