ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.548-18C>G

dbSNP: rs779705585
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002043213 SCV002301935 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2023-10-13 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the LRP4 gene. It does not directly change the encoded amino acid sequence of the LRP4 protein. This variant is present in population databases (rs779705585, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1510996). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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