ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2497T>C (p.Leu833=) (rs887578121)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470268 SCV000560291 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588473 SCV000698962 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2497T>C (p.Leu833Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in approximately 121358 control chromosomes from ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. An internal sample carrying this variant also carries a pathogenic variant BRCA2 c.6486_6489delACAA. Taken together, this variant is currently classified as VUS-possibly benign/possibly benign.
GeneDx RCV000604747 SCV000714882 likely benign not specified 2017-12-19 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.

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