ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3863A>G (p.Asp1288Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079126 SCV003461160 likely pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1288 of the LRP5 protein (p.Asp1288Gly). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This missense change has been observed in individuals with osteoporosis (PMID: 30283887, 33939331). This variant is present in population databases (rs762014835, gnomAD 0.002%).
Fulgent Genetics, Fulgent Genetics RCV005010960 SCV005630167 likely pathogenic 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 2024-03-10 criteria provided, single submitter clinical testing

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