ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile)

dbSNP: rs1567838124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690782 SCV000818508 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 252 of the BRIP1 protein (p.Thr252Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 570022). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BRIP1 protein function with a positive predictive value of 80%. 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 RCV001026565 SCV001188971 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-24 criteria provided, single submitter clinical testing The p.T252I variant (also known as c.755C>T), located in coding exon 6 of the BRIP1 gene, results from a C to T substitution at nucleotide position 755. The threonine at codon 252 is replaced by isoleucine, 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.
Baylor Genetics RCV003459683 SCV004217060 uncertain significance Familial cancer of breast 2023-07-12 criteria provided, single submitter clinical testing

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