ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val)

gnomAD frequency: 0.00001  dbSNP: rs767157733
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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 RCV001915418 SCV002171742 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs767157733, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1586 of the LRP5 protein (p.Ala1586Val).
Fulgent Genetics, Fulgent Genetics RCV002506991 SCV002812855 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 2021-09-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001915418 SCV005190412 uncertain significance not provided criteria provided, single submitter not provided

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