ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4402A>G (p.Asn1468Asp)

dbSNP: rs80357022
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187287 SCV001354031 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-18 criteria provided, single submitter clinical testing
Invitae RCV003644867 SCV004538523 uncertain significance Hereditary breast ovarian cancer syndrome 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1468 of the BRCA1 protein (p.Asn1468Asp). This variant is present in population databases (rs80357022, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 37591). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. 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.
Sharing Clinical Reports Project (SCRP) RCV000031172 SCV000053772 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2007-08-10 no assertion criteria provided clinical testing

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