ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003527459 SCV004307758 pathogenic 46,XY sex reversal 6 2023-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt MAP3K1 protein function. This missense change has been observed in individual(s) with MAP3K1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 450 of the MAP3K1 protein (p.Met450Val).

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