ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2363G>A (p.Arg788Gln)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002474003 SCV002769964 uncertain significance not provided 2022-06-22 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002474003 SCV003278333 uncertain significance not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 788 of the LRP5 protein (p.Arg788Gln). This variant is present in population databases (rs771972596, gnomAD 0.03%). This missense change has been observed in individual(s) with familial exudative Vitreoretinopathy (PMID: 36018796). ClinVar contains an entry for this variant (Variation ID: 1806574). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Probably Damaging". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV005050586 SCV005684377 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 2024-03-04 criteria provided, single submitter clinical testing

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