ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr) (rs80357078)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580411 SCV000683305 likely pathogenic Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV000048962 SCV000076975 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-11-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1789 of the BRCA1 protein (p.Ala1789Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs80357078, ExAC 0.006%). This variant has been reported in a family affected with breast and ovarian cancer (PMID: 18680205), and two individuals affected with breast cancer and ovarian cancer (PMID: 26381082). ClinVar contains an entry for this variant (Variation ID: 55552). Experimental studies have shown that this missense change inhibits growth suppression (PMID: 18680205, 23867111) and affects the expression of target genes in vitro (PMID: 22646717, 19493677, 24104880). 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.
Mendelics RCV000048962 SCV000839210 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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