ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1581C>G (p.Ile527Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002405812 SCV002705929 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-01 criteria provided, single submitter clinical testing The p.I527M variant (also known as c.1581C>G), located in coding exon 13 of the BAP1 gene, results from a C to G substitution at nucleotide position 1581. The isoleucine at codon 527 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
GeneDx RCV003443052 SCV004169690 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003464526 SCV004214901 uncertain significance BAP1-related tumor predisposition syndrome 2023-05-19 criteria provided, single submitter clinical testing

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