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 2021-03-12 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. This sequence change replaces leucine with phenylalanine at codon 660 of the BRIP1 protein (p.Leu660Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.
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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