ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr)

gnomAD frequency: 0.00002  dbSNP: rs746686714
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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 RCV001207841 SCV001379208 uncertain significance not provided 2022-12-04 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 not expected to disrupt LRP5 protein function. ClinVar contains an entry for this variant (Variation ID: 938590). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs746686714, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1369 of the LRP5 protein (p.Met1369Thr).
Fulgent Genetics, Fulgent Genetics RCV002480680 SCV002778863 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 2021-11-02 criteria provided, single submitter clinical testing

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