Submissions for variant NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)

gnomAD frequency: 0.00001  dbSNP: rs780770024

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000632791	SCV000753979	uncertain significance	Familial Mediterranean fever	2022-06-04	criteria provided, single submitter	clinical testing	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. ClinVar contains an entry for this variant (Variation ID: 527802). This variant has not been reported in the literature in individuals affected with MEFV-related conditions. This variant is present in population databases (rs780770024, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln594*) in the MEFV gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 188 amino acid(s) of the MEFV protein.
CeGaT Center for Human Genetics Tuebingen	RCV001815355	SCV002063480	uncertain significance	not provided	2021-12-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492960	SCV002776303	uncertain significance	Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis	2022-04-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000632791	SCV003802030	uncertain significance	Familial Mediterranean fever	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126881	SCV003802031	likely benign	Familial Mediterranean fever, autosomal dominant	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126882	SCV003802032	likely benign	Acute febrile neutrophilic dermatosis	2023-02-08	criteria provided, single submitter	clinical testing