ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.547+8T>G (rs762224894)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589145 SCV000600423 likely benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589145 SCV000699263 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.547+8T>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/121382 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. One reputable database has classified the variant as a VUS. Because of the absence of clinical information and the lack of functional studies, the variant has been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Invitae RCV001479955 SCV001684263 likely benign Hereditary breast and ovarian cancer syndrome 2020-05-20 criteria provided, single submitter clinical testing

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