ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.476C>T (p.Pro159Leu)

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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 RCV002948267 SCV003274639 benign 46,XY sex reversal 6 2023-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067320 SCV004901490 uncertain significance Inborn genetic diseases 2021-08-10 criteria provided, single submitter clinical testing The c.476C>T (p.P159L) alteration is located in exon 1 (coding exon 1) of the MAP3K1 gene. This alteration results from a C to T substitution at nucleotide position 476, causing the proline (P) at amino acid position 159 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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