ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro)

gnomAD frequency: 0.00006  dbSNP: rs374968269
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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 RCV001946423 SCV002209197 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-03-22 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1436709). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is present in population databases (rs374968269, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1010 of the BUB1B protein (p.Ser1010Pro).
Ambry Genetics RCV002441077 SCV002754322 uncertain significance Inborn genetic diseases 2023-10-30 criteria provided, single submitter clinical testing The c.3028T>C (p.S1010P) alteration is located in exon 23 (coding exon 23) of the BUB1B gene. This alteration results from a T to C substitution at nucleotide position 3028, causing the serine (S) at amino acid position 1010 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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