ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3377C>T (p.Pro1126Leu) (rs80356887)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166384 SCV000217176 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000485450 SCV000565921 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3377C>T at the cDNA level, p.Pro1126Leu (P1126L) at the protein level, and results in the change of a Proline to a Leucine (CCA>CTA). Using alternate nomenclature, this variant would be defined as BRCA1 3496C>T. This variant has been reported in at least one person undergoing BRCA1/2 analysis (Judkins 2005). BRCA1 Pro1126Leu was not observed at a significant allele frequency in large population cohorts (Lek 2016). BRCA1 Pro1126Leu is not located in a known functional domain. In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRCA1 Pro1126Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000166384 SCV000909306 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-04 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112083 SCV000144744 uncertain significance Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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