Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002584472 | SCV002947053 | uncertain significance | Fibrous dysplasia of jaw | 2022-08-20 | 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 144 of the SH3BP2 protein (p.Asp144Glu). |
Ambry Genetics | RCV002584473 | SCV003740116 | uncertain significance | Inborn genetic diseases | 2022-08-01 | criteria provided, single submitter | clinical testing | The c.432C>G (p.D144E) alteration is located in exon 6 (coding exon 5) of the SH3BP2 gene. This alteration results from a C to G substitution at nucleotide position 432, causing the aspartic acid (D) at amino acid position 144 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |