ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.423A>G (p.Glu141=)

dbSNP: rs777102216
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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 RCV000637951 SCV000759431 likely benign Hereditary breast ovarian cancer syndrome 2021-06-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779892 SCV000916782 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022115 SCV001183812 likely benign Hereditary cancer-predisposing syndrome 2022-12-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001766363 SCV001991590 uncertain significance not provided 2019-07-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Also known as BRCA1 c.542A>G

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