ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.393C>A (p.His131Gln)

gnomAD frequency: 0.00004  dbSNP: rs121912307
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001136925 SCV001296803 uncertain significance Multicentric carpo-tarsal osteolysis with or without nephropathy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856748 SCV002179427 benign not provided 2024-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491409 SCV002796971 uncertain significance Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness 2021-07-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003433021 SCV004116809 uncertain significance MAFB-related disorder 2023-07-22 criteria provided, single submitter clinical testing The MAFB c.393C>A variant is predicted to result in the amino acid substitution p.His131Gln. This variant has been reported in a genome-wide association study of cleft lip with and without cleft palate at higher frequencies in cases compared to controls (Beaty TH et al. 2010. PubMed ID: 20436469). This variant is reported in 0.056% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-39317098-G-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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