ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4488G>A (p.Pro1496=) (rs1565118560)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000785877 SCV000897704 uncertain significance Exudative vitreoretinopathy 4 2019-03-05 criteria provided, single submitter clinical testing The observed variant c.4488G>A is a synonymous mutation in exon 21 of the LRP5 gene. It has resulted in a synonymous amino acid change p.Pro1496Pro. The variant has not been reported in the 1000 Genomes, gnomAD and ExAC databases. The in silico prediction of this variant is damaging by MutationTaster2. The reference codon is conserved across mammals. The proband's mildly symptomatic mother is a heterozygote for said variant. In summary, the variant is classified to be of uncertain significance as per the ACMG Guidelines, 2015.

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