ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2747G>A (p.Arg916His)

gnomAD frequency: 0.00002  dbSNP: rs752315031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001921050 SCV002190084 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-08-09 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1415683). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. This variant is present in population databases (rs752315031, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 916 of the LRP4 protein (p.Arg916His).
Fulgent Genetics, Fulgent Genetics RCV001921050 SCV002794229 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738438 SCV005362302 uncertain significance LRP4-related disorder 2024-03-05 no assertion criteria provided clinical testing The LRP4 c.2747G>A variant is predicted to result in the amino acid substitution p.Arg916His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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