ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)

gnomAD frequency: 0.00002  dbSNP: rs28989181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000007154 SCV001200178 uncertain significance Mosaic variegated aneuploidy syndrome 1 2022-07-05 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. Experimental studies have shown that this missense change affects BUB1B function (PMID: 20516114, 25502805). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 6761). This missense change has been observed in individual(s) with mosaic variegated aneuploidy (MVA) and embryonal rhabdomyosarcoma of the soft palate (PMID: 9916837, 15475955, 18548531). This variant is present in population databases (rs28989181, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 844 of the BUB1B protein (p.Leu844Phe).
Fulgent Genetics, Fulgent Genetics RCV002504759 SCV002815641 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2022-01-10 criteria provided, single submitter clinical testing
OMIM RCV000007154 SCV000027350 pathogenic Mosaic variegated aneuploidy syndrome 1 2004-11-01 no assertion criteria provided literature only
OMIM RCV000007155 SCV000027351 affects Premature chromatid separation trait 2004-11-01 no assertion criteria provided literature only

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