ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.408C>A (p.Asn136Lys)

gnomAD frequency: 0.00003  dbSNP: rs752352965
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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 RCV001058393 SCV001222959 uncertain significance not provided 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 136 of the LRP5 protein (p.Asn136Lys). This variant is present in population databases (rs752352965, gnomAD 0.003%). This missense change has been observed in individual(s) with osteoporosis (PMID: 33939331). ClinVar contains an entry for this variant (Variation ID: 853561). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LRP5 protein function with a negative predictive value of 95%. 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 RCV005005017 SCV002787407 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 2024-04-20 criteria provided, single submitter clinical testing

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