ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3028-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337841 SCV004048196 likely pathogenic Osteoporosis with pseudoglioma criteria provided, single submitter clinical testing The splice site c.3028-1G>A variant in LRP5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change in LRP5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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