ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3764-3C>T

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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 RCV002720208 SCV002992157 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the LRP5 gene. It does not directly change the encoded amino acid sequence of the LRP5 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200397490, gnomAD 0.004%). 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: 1956273). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV005008701 SCV005630162 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 2024-01-08 criteria provided, single submitter clinical testing

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