ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3914A>T (p.Asp1305Val) (rs431825402)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549261 SCV000635930 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-08-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 1305 of the BRCA1 protein (p.Asp1305Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with breast cancer in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 96920). 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 variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000775151 SCV000909285 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775151 SCV001183042 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-19 criteria provided, single submitter clinical testing Insufficient evidence
Sharing Clinical Reports Project (SCRP) RCV000083041 SCV000115115 uncertain significance Breast-ovarian cancer, familial 1 2008-01-24 no assertion criteria provided clinical testing

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