ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser)

gnomAD frequency: 0.00001  dbSNP: rs770787447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005005136 SCV002779306 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 2024-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541754 SCV002944214 uncertain significance not provided 2022-10-25 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 992381). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs770787447, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1100 of the LRP5 protein (p.Gly1100Ser).
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280820 SCV001468160 uncertain significance Polycystic liver disease 4 with or without kidney cysts 2019-12-16 no assertion criteria provided clinical testing

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