ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1248A>G (p.Leu416=)

dbSNP: rs1057522369
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423735 SCV000527375 likely benign not specified 2016-04-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000541302 SCV000635787 likely benign Hereditary breast ovarian cancer syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561810 SCV000673035 likely benign Hereditary cancer-predisposing syndrome 2016-07-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago RCV000423735 SCV002065195 likely benign not specified 2021-04-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477923 SCV004222554 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRCA1 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Color Diagnostics, LLC DBA Color Health RCV000561810 SCV004361069 likely benign Hereditary cancer-predisposing syndrome 2022-04-06 criteria provided, single submitter clinical testing

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