ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003035827 SCV003343629 uncertain significance Mosaic variegated aneuploidy syndrome 1 2022-04-10 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 968 of the BUB1B protein (p.His968Tyr).
Ambry Genetics RCV004963352 SCV005546119 uncertain significance Inborn genetic diseases 2024-08-07 criteria provided, single submitter clinical testing The p.H968Y variant (also known as c.2902C>T), located in coding exon 22 of the BUB1B gene, results from a C to T substitution at nucleotide position 2902. The histidine at codon 968 is replaced by tyrosine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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