Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598725 | SCV000710216 | uncertain significance | not specified | 2017-12-07 | criteria provided, single submitter | clinical testing | The c.383_391dupAGGGGAACG variant has been reported previously in the Infevers database. The variant is observed in 1/9714 (0.01%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The variant results in an in-frame duplication of three amino acids that are not conserved across species. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Mendelics | RCV000083773 | SCV001139893 | uncertain significance | Familial Mediterranean fever | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090252 | SCV001245678 | pathogenic | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000083773 | SCV001394201 | uncertain significance | Familial Mediterranean fever | 2022-08-21 | criteria provided, single submitter | clinical testing | This variant, c.383_391dup, results in the insertion of 3 amino acid(s) of the MEFV protein (p.Glu128_Asn130dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752170064, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MEFV-related conditions. ClinVar contains an entry for this variant (Variation ID: 97521). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Unité médicale des maladies autoinflammatoires, |
RCV000083773 | SCV000115869 | not provided | Familial Mediterranean fever | no assertion provided | not provided | ||
Natera, |
RCV000083773 | SCV001457156 | uncertain significance | Familial Mediterranean fever | 2020-09-16 | no assertion criteria provided | clinical testing |