ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.134+19dup (rs768647585)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000776483 SCV000912060 likely benign Hereditary cancer-predisposing syndrome 2018-02-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781036 SCV000918805 uncertain significance not specified 2018-12-17 criteria provided, single submitter clinical testing Variant summary: The variant, BRCA1 c.134+19dupT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. However, 5/5 computational tools predict no significant impact on normal splicing. These predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 243598 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.134+19dupT in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV000877289 SCV001020004 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing
Invitae RCV001446120 SCV001649162 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-20 criteria provided, single submitter clinical testing

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