ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2137G>C (p.Val713Leu)

gnomAD frequency: 0.00001  dbSNP: rs751720886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001200880 SCV001371784 uncertain significance Polycystic liver disease 4 with or without kidney cysts 2020-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001313129 SCV001503608 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LRP5-related conditions. This variant is present in population databases (rs751720886, ExAC 0.002%). This sequence change replaces valine with leucine at codon 713 of the LRP5 protein (p.Val713Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine.
Fulgent Genetics, Fulgent Genetics RCV002484073 SCV002789311 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2021-12-09 criteria provided, single submitter clinical testing

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