ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5530C>T (p.Leu1844Phe)

dbSNP: rs1471435242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003117744 SCV003789609 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1844 of the BRCA1 protein (p.Leu1844Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 868626). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Brotman Baty Institute, University of Washington RCV001077562 SCV001243511 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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