ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser)

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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 RCV002437425 SCV002744976 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The p.N903S variant (also known as c.2708A>G), located in coding exon 21 of the BUB1B gene, results from an A to G substitution at nucleotide position 2708. The asparagine at codon 903 is replaced by serine, an amino acid with highly 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 RCV003102129 SCV003512681 uncertain significance Mosaic variegated aneuploidy syndrome 1 2022-02-18 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 903 of the BUB1B protein (p.Asn903Ser).

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