ClinVar Miner

Submissions for variant NM_004656.3(BAP1):c.1931C>T (p.Ala644Val) (rs551399575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776081 SCV000910825 likely benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
Invitae RCV000550516 SCV000651872 uncertain significance Tumor susceptibility linked to germline BAP1 mutations 2018-03-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 644 of the BAP1 protein (p.Ala644Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs551399575, ExAC 0.001%). This variant has not been reported in the literature in individuals with BAP1-related disease. ClinVar contains an entry for this variant (Variation ID: 472685). Experimental studies have shown that this missense change does not disrupt BAP1 deubiquitinase activity (PMID: 28062663). 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.

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