Submissions for variant NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val)

gnomAD frequency: 0.00026  dbSNP: rs189290632

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002066334	SCV002353052	likely benign	46,XY sex reversal 6	2024-10-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002066334	SCV002811269	likely benign	46,XY sex reversal 6	2022-03-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004986713	SCV005616858	uncertain significance	Inborn genetic diseases	2024-08-28	criteria provided, single submitter	clinical testing	The c.2431A>G (p.M811V) alteration is located in exon 14 (coding exon 14) of the MAP3K1 gene. This alteration results from a A to G substitution at nucleotide position 2431, causing the methionine (M) at amino acid position 811 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003943060	SCV004760011	likely benign	MAP3K1-related disorder	2022-08-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).