ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2752C>T (p.Leu918Phe)

dbSNP: rs145639700
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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 RCV002233167 SCV000815908 uncertain significance Mosaic variegated aneuploidy syndrome 1 2018-06-12 criteria provided, single submitter clinical testing 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"). This sequence change replaces leucine with phenylalanine at codon 918 of the BUB1B protein (p.Leu918Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs145639700, ExAC 0.001%). This variant has not been reported in the literature in individuals with BUB1B-related disease. 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 RCV004965667 SCV005546230 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.2752C>T (p.L918F) alteration is located in exon 21 (coding exon 21) of the BUB1B gene. This alteration results from a C to T substitution at nucleotide position 2752, causing the leucine (L) at amino acid position 918 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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