Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV003329211 | SCV004035995 | uncertain significance | Familial Mediterranean fever | 2023-05-12 | criteria provided, single submitter | clinical testing | The MEFV c.390C>A (p.Asn130Lys) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed at a significant frequency in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Multiple lines of computational evidence suggest the variant may not impact the gene or gene product. Based on the available evidence, the c.390C>A (p.Asn130Lys) variant is classified as a variant of uncertain significance for familial Mediterranean fever. |