ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr)

gnomAD frequency: 0.00001  dbSNP: rs776839535
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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 RCV001972887 SCV002252287 uncertain significance not provided 2021-07-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1136 of the LRP5 protein (p.Ile1136Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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 with LRP5-related conditions. This variant is present in population databases (rs776839535, ExAC 0.003%).
Fulgent Genetics, Fulgent Genetics RCV002492173 SCV002787735 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 2021-09-15 criteria provided, single submitter clinical testing

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