ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2206G>A (p.Asp736Asn)

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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 RCV002575370 SCV002933786 uncertain significance not provided 2022-09-26 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) performed at Invitae indicates that this missense variant is expected to disrupt LRP5 protein function. This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs776613004, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 736 of the LRP5 protein (p.Asp736Asn).
Fulgent Genetics, Fulgent Genetics RCV005050590 SCV005684372 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 2023-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896223 SCV004715080 uncertain significance LRP5-related disorder 2024-04-16 no assertion criteria provided clinical testing The LRP5 c.2206G>A variant is predicted to result in the amino acid substitution p.Asp736Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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