ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1824G>C (p.Gln608His)

dbSNP: rs1567812636
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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 RCV000697689 SCV000826315 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-03-12 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt BRIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 575463). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 608 of the BRIP1 protein (p.Gln608His).
Ambry Genetics RCV001013272 SCV001173839 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-28 criteria provided, single submitter clinical testing The p.Q608H variant (also known as c.1824G>C), located in coding exon 12 of the BRIP1 gene, results from a G to C substitution at nucleotide position 1824. The glutamine at codon 608 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282334 SCV002570963 uncertain significance not specified 2022-07-08 criteria provided, single submitter clinical testing

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