ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2134G>A (p.Val712Met)

gnomAD frequency: 0.00002  dbSNP: rs765239493
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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 RCV001971835 SCV002198671 uncertain significance not provided 2023-07-31 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on LRP5 protein function. ClinVar contains an entry for this variant (Variation ID: 1430467). This missense change has been observed in individual(s) with early onset osteoporosis (PMID: 33118644). This variant is present in population databases (rs765239493, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 712 of the LRP5 protein (p.Val712Met).
Fulgent Genetics, Fulgent Genetics RCV002491974 SCV002780438 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 2021-12-09 criteria provided, single submitter clinical testing

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