Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000083700 | SCV001016578 | likely benign | Familial Mediterranean fever | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192542 | SCV001360754 | uncertain significance | not specified | 2022-05-23 | criteria provided, single submitter | clinical testing | Variant summary: MEFV c.1502G>A (p.Arg501His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00017 in 251744 control chromosomes (gnomAD, Carmi_2014). This frequency is not significantly higher than expected for a pathogenic variant in MEFV causing Familial Mediterranean Fever (0.00017 vs 0.022), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1502G>A in individuals affected with Familial Mediterranean Fever and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely benign. The Infevers database states that this variant was found in an asymptomatic individual who also carried MEFV c.442G>C (p.Glu148Gln) without providing any additional information and reports a validated classification of likely benign (Van Gijn_2018). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Genome Diagnostics Laboratory, |
RCV002262633 | SCV002543709 | uncertain significance | Autoinflammatory syndrome | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Unité médicale des maladies autoinflammatoires, |
RCV000083700 | SCV000115789 | not provided | Familial Mediterranean fever | no assertion provided | not provided |