ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1762A>G (p.Ser588Gly) (rs1169162396)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637392 SCV000758848 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-11-22 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 588 of the BRCA1 protein (p.Ser588Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individuals with a personal or family history of breast and/or ovarian cancer (PMID: 27376475, 18824701). Based on a multifactorial likelihood algorithm using genetic, in silico and statistical data, this variant has been determined to have a low probability of being pathogenic (PMID: 21990134). 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.
Color RCV000772446 SCV000905624 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-18 criteria provided, single submitter clinical testing

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