ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003641322 SCV004397334 uncertain significance 46,XY sex reversal 6 2023-06-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1139 of the MAP3K1 protein (p.Ser1139Phe). 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 MAP3K1 protein function. This variant has not been reported in the literature in individuals affected with MAP3K1-related conditions. This variant is present in population databases (rs750141197, gnomAD 0.008%).

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