ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr)

dbSNP: rs559360433
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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 RCV000818584 SCV000959204 uncertain significance 46,XY sex reversal 6 2022-07-05 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Ala1443 amino acid residue in MAP3K1. Other variant(s) that disrupt this residue have been observed in individuals with MAP3K1-related conditions (PMID: 27899157), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 661215). This variant has not been reported in the literature in individuals affected with MAP3K1-related conditions. This variant is present in population databases (rs559360433, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1443 of the MAP3K1 protein (p.Ala1443Thr).

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