ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys)

gnomAD frequency: 0.00006  dbSNP: rs754640057
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002019052 SCV002259200 uncertain significance 46,XY sex reversal 6 2023-05-15 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1478607). This variant has not been reported in the literature in individuals affected with MAP3K1-related conditions. This variant is present in population databases (rs754640057, gnomAD 0.02%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 1081 of the MAP3K1 protein (p.Met1081Lys).

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