ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.917G>A (p.Arg306His)

gnomAD frequency: 0.00005  dbSNP: rs375262853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001457287 SCV001661088 likely benign 46,XY sex reversal 6 2024-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561257 SCV003723521 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.917G>A (p.R306H) alteration is located in exon 4 (coding exon 4) of the MAP3K1 gene. This alteration results from a G to A substitution at nucleotide position 917, causing the arginine (R) at amino acid position 306 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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