ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro) (rs398122686)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476060 SCV000549349 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 1473 of the BRCA1 protein (p.Ser1473Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in patients with suspicion of Hereditary Breast and Ovarian Cancer Syndrome (PMID: 23613828). ClinVar contains an entry for this variant (Variation ID: 91630). Experimental studies have shown that this missense change does not reduce transcriptional activity relative to wild-type (PMID: 23613828). 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.
Ambry Genetics RCV000566648 SCV000660989 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-10 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes)
Counsyl RCV000077147 SCV000785097 uncertain significance Breast-ovarian cancer, familial 1 2017-05-02 criteria provided, single submitter clinical testing
Color RCV000566648 SCV000909027 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077147 SCV000108944 uncertain significance Breast-ovarian cancer, familial 1 2011-07-30 no assertion criteria provided clinical testing

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