ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del)

dbSNP: rs72555376
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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 RCV001913097 SCV002169467 uncertain significance not provided 2024-09-23 criteria provided, single submitter clinical testing This variant, c.46_60del, results in the deletion of 5 amino acid(s) of the LRP5 protein (p.Leu16_Leu20del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LRP5-related conditions. 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 RCV002482789 SCV002786876 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 2021-09-23 criteria provided, single submitter clinical testing

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