ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1277T>G (p.Val426Gly)

dbSNP: rs1567829202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781169 SCV000919048 uncertain significance not specified 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.1277T>G (p.Val426Gly) variant involves the alteration of a conserved nucleotide and is predicted to be damaging by 3/4 in silico tools (SNPsandGO not captured due to low reliability index). This variant is absent in 245980 control chromosomes (gnomAD). 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. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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