ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1A>T (p.Met1Leu) (rs764585550)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536251 SCV000633585 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-04-25 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the BRIP1 mRNA (c.1A>T). While it is expected to result in an absent or disrupted protein product, alternate in-frame methionines at codons 4, 28, or 29, located downstream of the initiator codon could potentially rescue the translation initiation. However, functional studies have not been done to test whether these alternate methionines are utilized or not. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. In summary, this is a rare sequence change at the initiator codon with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000571784 SCV000668892 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Other strong data supporting pathogenic classification

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