ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro)

dbSNP: rs1592529316
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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 RCV000792223 SCV000931504 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-02-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LRP4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 876 of the LRP4 protein (p.Thr876Pro). ClinVar contains an entry for this variant (Variation ID: 639435). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.

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