ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1240G>A (p.Glu414Lys)

gnomAD frequency: 0.00001  dbSNP: rs770664323
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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 RCV001907894 SCV002133628 uncertain significance not provided 2023-05-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs770664323, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 414 of the LRP5 protein (p.Glu414Lys). ClinVar contains an entry for this variant (Variation ID: 1365266). 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.
Fulgent Genetics, Fulgent Genetics RCV005050427 SCV005684338 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 2024-03-26 criteria provided, single submitter clinical testing

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