Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Breast Center, |
RCV001254342 | SCV001430329 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001254342 | SCV003299499 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-01-16 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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. ClinVar contains an entry for this variant (Variation ID: 37422). This missense change has been observed in individual(s) with breast cancer (PMID: 32803532). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 54 of the BRCA1 protein (p.Gln54Arg). |
Baylor Genetics | RCV000031003 | SCV004212723 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-10-12 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031003 | SCV000053596 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2009-07-13 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000031003 | SCV001242969 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |