Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Revvity Omics, |
RCV001783315 | SCV002023761 | pathogenic | not provided | 2020-01-30 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230695 | SCV003928770 | likely pathogenic | Fraser syndrome 1 | 2023-04-14 | criteria provided, single submitter | clinical testing | Variant summary: FREM2 c.2833delC (p.His945IlefsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 251346 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2833delC in individuals affected with Cryptophthalmos Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV001783315 | SCV004648796 | pathogenic | not provided | 2024-02-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His945Ilefs*10) in the FREM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FREM2 are known to be pathogenic (PMID: 18203166, 26552811). This variant is present in population databases (rs759257554, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FREM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1322940). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV005006042 | SCV005635198 | likely pathogenic | Isolated cryptophthalmia; Fraser syndrome 2 | 2024-05-26 | criteria provided, single submitter | clinical testing |