ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2359G>A (p.Val787Met)

dbSNP: rs778567335
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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 RCV001245766 SCV001419075 uncertain significance not provided 2022-03-28 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 970226). This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs778567335, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 787 of the LRP5 protein (p.Val787Met).
Fulgent Genetics, Fulgent Genetics RCV002480836 SCV002793345 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 2021-11-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003399013 SCV004103493 uncertain significance LRP5-related disorder 2023-09-13 criteria provided, single submitter clinical testing The LRP5 c.2359G>A variant is predicted to result in the amino acid substitution p.Val787Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0099% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-68178944-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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