ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002435799 SCV002753348 uncertain significance Inborn genetic diseases 2022-01-29 criteria provided, single submitter clinical testing The p.D1005H variant (also known as c.3013G>C), located in coding exon 23 of the BUB1B gene, results from a G to C substitution at nucleotide position 3013. The aspartic acid at codon 1005 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003111556 SCV003785502 uncertain significance Mosaic variegated aneuploidy syndrome 1 2022-08-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1005 of the BUB1B protein (p.Asp1005His).

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