ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2518G>A (p.Val840Met)

gnomAD frequency: 0.00004  dbSNP: rs757262154
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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 RCV001206213 SCV001377510 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 840 of the LRP5 protein (p.Val840Met). This variant is present in population databases (rs757262154, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. ClinVar contains an entry for this variant (Variation ID: 937241). 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. 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 RCV002480674 SCV002799542 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 2022-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259148 SCV003954920 uncertain significance Inborn genetic diseases 2023-05-30 criteria provided, single submitter clinical testing The c.2518G>A (p.V840M) alteration is located in exon 12 (coding exon 12) of the LRP5 gene. This alteration results from a G to A substitution at nucleotide position 2518, causing the valine (V) at amino acid position 840 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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