ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.*58C>T

dbSNP: rs137892861
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204618 SCV000261677 uncertain significance Hereditary breast ovarian cancer syndrome 2015-10-28 criteria provided, single submitter clinical testing
Mendelics RCV000989862 SCV001140460 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000989862 SCV001284847 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV002508198 SCV002818014 uncertain significance not provided 2024-09-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Located in a regulatory region; in the absence of functional studies, the actual effect of this sequence change is unknown; Observed in an individual with breast cancer and not observed among controls (PMID: 22753153); This variant is associated with the following publications: (PMID: 26332594, Brewster[Abstract]2012, 22753153)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361198 SCV005917118 likely pathogenic Fanconi anemia, complementation group S criteria provided, single submitter clinical testing
BRCAlab, Lund University RCV000989862 SCV004243899 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2020-03-02 no assertion criteria provided clinical testing

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