ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup)

dbSNP: rs746070735
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950508 SCV002226359 uncertain significance 46,XY sex reversal 6 2021-03-08 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.179_181dup, results in the insertion of 1 amino acid(s) to the MAP3K1 protein (p.Arg60dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MAP3K1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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