ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser)

dbSNP: rs142968004
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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 RCV001034061 SCV001197386 likely benign 46,XY sex reversal 6 2022-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552440 SCV003573178 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.2696A>G (p.N899S) 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 2696, causing the asparagine (N) at amino acid position 899 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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