ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1679A>T (p.Asn560Ile) (rs1555602592)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588788 SCV000699669 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.1679A>T (p.Asn560Ile) variant involves the alteration of a conserved nucleotide that 3/4 in silico tools (SNPs&GO and MutationTaster not captured due to low reliability index and p-value, respectively) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."

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