ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4304A>G (p.Asp1435Gly) (rs876660809)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216918 SCV000278525 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-25 criteria provided, single submitter clinical testing Insufficient evidence
Mendelics RCV000709471 SCV000839236 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709471 SCV000944280 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-09-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1435 of the BRCA1 protein (p.Asp1435Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 234039). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985414 SCV001133580 uncertain significance not provided 2019-07-04 criteria provided, single submitter clinical testing
Mendelics RCV000989886 SCV001140529 uncertain significance Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing

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