Submissions for variant NM_005461.5(MAFB):c.617G>A (p.Ser206Asn)

gnomAD frequency: 0.00002  dbSNP: rs909242045

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002032271	SCV002312162	uncertain significance	not provided	2023-08-30	criteria provided, single submitter	clinical testing	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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt MAFB protein function. ClinVar contains an entry for this variant (Variation ID: 1525186). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 206 of the MAFB protein (p.Ser206Asn).
Fulgent Genetics, Fulgent Genetics	RCV002479836	SCV002793654	uncertain significance	Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness	2021-11-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002032271	SCV004183907	uncertain significance	not provided	2023-11-01	criteria provided, single submitter	clinical testing