ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1436G>A (p.Arg479His)

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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 RCV002900499 SCV003251983 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-05-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 479 of the LRP4 protein (p.Arg479His). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with LRP4-related conditions. This variant is present in population databases (rs764520299, gnomAD 0.05%).
Ambry Genetics RCV003167919 SCV003867187 uncertain significance Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing The c.1436G>A (p.R479H) alteration is located in exon 12 (coding exon 12) of the LRP4 gene. This alteration results from a G to A substitution at nucleotide position 1436, causing the arginine (R) at amino acid position 479 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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