ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3411_3412inv (p.Asp1138Asn) (rs1555572620)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583646 SCV000689378 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586252 SCV000699722 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.3411_3412delinsCA (p.Asp1138delinsAsn) variant involves the alteration of two adjacent nucleotides resulting in an in-frame amino acid change. One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/120914 control chromosomes, which does not rule out the pathogenicity of this variant. 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 was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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