ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1960G>A (p.Val654Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002421737 SCV002722149 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-04 criteria provided, single submitter clinical testing The p.V654I variant (also known as c.1960G>A), located in coding exon 15 of the BAP1 gene, results from a G to A substitution at nucleotide position 1960. The valine at codon 654 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003097390 SCV003024468 uncertain significance BAP1-related tumor predisposition syndrome 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 654 of the BAP1 protein (p.Val654Ile). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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