ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2119G>C (p.Gly707Arg) (rs587781420)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129290 SCV000184051 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-19 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000129290 SCV001352955 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-16 criteria provided, single submitter clinical testing
Invitae RCV001214917 SCV001386626 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 707 of the BRCA1 protein (p.Gly707Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database. ClinVar contains an entry for this variant (Variation ID: 140990). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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