ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4638T>G (p.Asp1546Glu)

dbSNP: rs397507235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719705 SCV000531589 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25722345, 28508593, 30212499)
Color Diagnostics, LLC DBA Color Health RCV000774940 SCV000909016 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-18 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glutamic acid at codon 1546 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV000941372 SCV001087257 likely benign Hereditary breast ovarian cancer syndrome 2022-08-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031182 SCV000053782 benign Breast-ovarian cancer, familial, susceptibility to, 1 2011-07-19 no assertion criteria provided clinical testing

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