ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val) (rs80356858)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132233 SCV000187316 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034758 SCV000043151 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000132233 SCV000908992 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-02 criteria provided, single submitter clinical testing
Invitae RCV000229512 SCV000289820 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-12-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 1705 of the BRCA1 protein (p.Leu1705Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. This variant has been reported in an individual who did not have a personal or family history of cancer (PMID:22703879). ClinVar contains an entry for this variant (Variation ID: 41832). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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