ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3637+4C>T

gnomAD frequency: 0.00002  dbSNP: rs746451473
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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 RCV001874593 SCV002128310 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with familial exudative vitreoretinopathy (PMID: 29181528). This sequence change falls in intron 16 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 (rs746451473, gnomAD 0.03%). ClinVar contains an entry for this variant (Variation ID: 1369175). 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 RCV005005321 SCV002786746 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 2024-04-05 criteria provided, single submitter clinical testing

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