ClinVar Miner

Submissions for variant NM_005461.5(MAFB):c.227C>A (p.Thr76Asn)

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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 RCV002639610 SCV002972989 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with MAFB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 76 of the MAFB protein (p.Thr76Asn).
Fulgent Genetics, Fulgent Genetics RCV005034354 SCV005656938 uncertain significance Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness 2024-04-30 criteria provided, single submitter clinical testing

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