ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002601774 SCV002953061 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-03-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 274 of the LRP4 protein (p.Gln274Glu). This variant is present in population databases (rs372468767, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. 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"). 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.
Ambry Genetics RCV003250535 SCV003938839 uncertain significance Inborn genetic diseases 2023-04-07 criteria provided, single submitter clinical testing The c.820C>G (p.Q274E) alteration is located in exon 8 (coding exon 8) of the LRP4 gene. This alteration results from a C to G substitution at nucleotide position 820, causing the glutamine (Q) at amino acid position 274 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002601774 SCV005684024 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-04-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534139 SCV004730838 uncertain significance LRP4-related disorder 2024-01-17 no assertion criteria provided clinical testing The LRP4 c.820C>G variant is predicted to result in the amino acid substitution p.Gln274Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of European (Non-Finnish) 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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