ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe)

dbSNP: rs1060501746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464396 SCV000547281 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2024-12-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 660 of the BRIP1 protein (p.Leu660Phe). 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: 407820). Invitae Evidence 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 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. 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.
Color Diagnostics, LLC DBA Color Health RCV000775735 SCV000910163 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775735 SCV002719021 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-15 criteria provided, single submitter clinical testing The p.L660F variant (also known as c.1978C>T), located in coding exon 13 of the BRIP1 gene, results from a C to T substitution at nucleotide position 1978. The leucine at codon 660 is replaced by phenylalanine, an amino acid with highly similar 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 RCV003463895 SCV004217097 uncertain significance Familial cancer of breast 2023-06-02 criteria provided, single submitter clinical testing

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