Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ce |
RCV000994626 | SCV001148261 | uncertain significance | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001059429 | SCV001224053 | uncertain significance | Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1025 of the LRP4 protein (p.Gly1025Arg). This variant is present in population databases (rs141565454, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 806670). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Illumina Laboratory Services, |
RCV001104141 | SCV001260981 | uncertain significance | Cenani-Lenz syndactyly syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Revvity Omics, |
RCV000994626 | SCV003812748 | uncertain significance | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004030180 | SCV004899325 | uncertain significance | Inborn genetic diseases | 2022-05-18 | criteria provided, single submitter | clinical testing | The c.3073G>C (p.G1025R) alteration is located in exon 22 (coding exon 22) of the LRP4 gene. This alteration results from a G to C substitution at nucleotide position 3073, causing the glycine (G) at amino acid position 1025 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Breakthrough Genomics, |
RCV000994626 | SCV005191279 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
| Fulgent Genetics, |
RCV001059429 | SCV005683204 | uncertain significance | Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 | 2024-03-25 | criteria provided, single submitter | clinical testing |