ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln) (rs757987511)

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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 RCV000510063 SCV000607945 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing Insufficient evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759486 SCV000888830 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing
Invitae RCV001204569 SCV001375781 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-07-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with glutamine at codon 347 of the BRCA1 protein (p.Leu347Gln). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is present in population databases (rs757987511, ExAC 0.01%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 441364). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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