ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1315C>A (p.Arg439=) (rs587780226)

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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 RCV000589451 SCV000699661 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.1315C>A (p.Arg439Arg) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant, and 4/5 splicing algorithms predict no significant change to splicing. This variant was absent in 121252 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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