ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val)

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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 RCV002640526 SCV003519969 uncertain significance 46,XY sex reversal 6 2022-04-09 criteria provided, single submitter clinical testing This missense change has been observed in at least one individual who was not affected with MAP3K1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with MAP3K1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1440 of the MAP3K1 protein (p.Ile1440Val). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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