ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1922T>C (p.Ile641Thr)

dbSNP: rs1555602126
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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 RCV000565083 SCV000668945 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-31 criteria provided, single submitter clinical testing The p.I641T variant (also known as c.1922T>C), located in coding exon 12 of the BRIP1 gene, results from a T to C substitution at nucleotide position 1922. The isoleucine at codon 641 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985637 SCV001134008 uncertain significance not provided 2018-12-04 criteria provided, single submitter clinical testing

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