ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1994A>T (p.Gln665Leu)

dbSNP: rs2145031487
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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 RCV001361696 SCV001557680 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-04-11 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 1053361). 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 leucine, which is neutral and non-polar, at codon 665 of the BRIP1 protein (p.Gln665Leu).
Ambry Genetics RCV002420791 SCV002720914 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-24 criteria provided, single submitter clinical testing The p.Q665L variant (also known as c.1994A>T), located in coding exon 13 of the BRIP1 gene, results from an A to T substitution at nucleotide position 1994. The glutamine at codon 665 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004570877 SCV005059949 uncertain significance Familial cancer of breast 2023-11-23 criteria provided, single submitter clinical testing

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