Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001924569 | SCV002152254 | uncertain significance | 46,XY sex reversal 6 | 2021-09-10 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with cysteine at codon 1089 of the MAP3K1 protein (p.Ser1089Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs755658722, ExAC 0.02%). 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. 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: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with MAP3K1-related conditions. |
Ambry Genetics | RCV002552861 | SCV003571941 | uncertain significance | Inborn genetic diseases | 2021-08-10 | criteria provided, single submitter | clinical testing | The c.3266C>G (p.S1089C) alteration is located in exon 14 (coding exon 14) of the MAP3K1 gene. This alteration results from a C to G substitution at nucleotide position 3266, causing the serine (S) at amino acid position 1089 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |