ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3237-16C>A

dbSNP: rs748779058
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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 RCV001968014 SCV002218059 uncertain significance not provided 2021-08-22 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the LRP5 gene. It does not directly change the encoded amino acid sequence of the LRP5 protein. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with LRP5-related conditions. This variant is present in population databases (rs748779058, ExAC 0.003%).
Fulgent Genetics, Fulgent Genetics RCV002484718 SCV002800875 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 2021-10-30 criteria provided, single submitter clinical testing

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