ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser)

gnomAD frequency: 0.00001  dbSNP: rs776947784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015586 SCV002288393 uncertain significance not provided 2024-07-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 850 of the LRP5 protein (p.Gly850Ser). This variant is present in population databases (rs776947784, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1500361). 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. 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 RCV002479730 SCV002791707 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 2022-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002657653 SCV003530546 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.2548G>A (p.G850S) alteration is located in exon 12 (coding exon 12) of the LRP5 gene. This alteration results from a G to A substitution at nucleotide position 2548, causing the glycine (G) at amino acid position 850 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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