ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.533G>T (p.Arg178Leu)

dbSNP: rs183377804
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058303 SCV001222863 uncertain significance not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 178 of the LRP5 protein (p.Arg178Leu). This variant is present in population databases (rs183377804, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 853488). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LRP5 protein function with a positive predictive value of 80%. 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.
GeneDx RCV001058303 SCV001997281 uncertain significance not provided 2024-04-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276607 SCV002564924 uncertain significance Osteogenesis imperfecta 2021-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482027 SCV002792255 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 2022-03-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001058303 SCV005190405 uncertain significance not provided criteria provided, single submitter not provided

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