ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu)

dbSNP: rs886040263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772851 SCV000906233 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-23 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 168 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with breast cancer (PMID: 29021639). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800870 SCV002046421 uncertain significance not provided 2020-11-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000772851 SCV002537804 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002493410 SCV002781213 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2021-11-10 criteria provided, single submitter clinical testing

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