ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4324G>T (p.Gly1442Cys)

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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 RCV002616934 SCV002957544 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1442 of the LRP5 protein (p.Gly1442Cys). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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 not expected to disrupt LRP5 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 RCV005008657 SCV005630199 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 2024-05-27 criteria provided, single submitter clinical testing

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