ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln)

gnomAD frequency: 0.00002  dbSNP: rs779079160
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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 RCV001992320 SCV002284443 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2020-11-06 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LRP4-related conditions. This variant is present in population databases (rs779079160, ExAC 0.01%). This sequence change replaces arginine with glutamine at codon 1885 of the LRP4 protein (p.Arg1885Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.
Ambry Genetics RCV004982825 SCV005612849 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.5654G>A (p.R1885Q) alteration is located in exon 38 (coding exon 38) of the LRP4 gene. This alteration results from a G to A substitution at nucleotide position 5654, causing the arginine (R) at amino acid position 1885 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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