Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000175720 | SCV000227257 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000175720 | SCV000968966 | likely benign | not provided | 2018-05-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Invitae | RCV000175720 | SCV001628743 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000175720 | SCV004562140 | uncertain significance | not provided | 2023-02-21 | criteria provided, single submitter | clinical testing | The LRP5 c.263A>G; p.Lys88Arg variant (rs78219242) is not reported in the literature in individuals with LRP5-associated disease, however it was detected in an individual affected with early-onset high myopia (Gonzalez-Iglesias 2022). This variant is also reported in ClinVar (Variation ID: 195167). This variant is found in the African/African-American population with an allele frequency of 0.30% (77/24946 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.56). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Gonzalez-Iglesias E et al. Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study. Int J Mol Sci. 2022 Apr 11;23(8):4233. PMID: 35457050. |