Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003084014 | SCV003468294 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2023-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 894 of the BUB1B protein (p.Ile894Asn). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2155957). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is present in population databases (rs756903136, gnomAD 0.01%). |
Ambry Genetics | RCV003161725 | SCV003912034 | uncertain significance | Inborn genetic diseases | 2024-12-02 | criteria provided, single submitter | clinical testing | The c.2681T>A (p.I894N) alteration is located in exon 21 (coding exon 21) of the BUB1B gene. This alteration results from a T to A substitution at nucleotide position 2681, causing the isoleucine (I) at amino acid position 894 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |