ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2351C>T (p.Ala784Val)

gnomAD frequency: 0.00013  dbSNP: rs142705245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230087 SCV000541103 uncertain significance Mosaic variegated aneuploidy syndrome 1 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 784 of the BUB1B protein (p.Ala784Val). This variant is present in population databases (rs142705245, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 403751). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV003168719 SCV003874870 uncertain significance Inborn genetic diseases 2024-07-25 criteria provided, single submitter clinical testing The c.2351C>T (p.A784V) alteration is located in exon 18 (coding exon 18) of the BUB1B gene. This alteration results from a C to T substitution at nucleotide position 2351, causing the alanine (A) at amino acid position 784 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010332 SCV005638078 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2024-06-04 criteria provided, single submitter clinical testing

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