Submissions for variant NM_000243.3(MEFV):c.1759+7C>T

gnomAD frequency: 0.00006  dbSNP: rs772667365

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780409	SCV000917632	uncertain significance	not specified	2017-12-20	criteria provided, single submitter	clinical testing	Variant summary: The MEFV c.1759+7C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 14/246198 control chromosomes (gnomAD) at a frequency of 0.0000569, which does not exceed the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).
Invitae	RCV001825529	SCV002399663	likely benign	Familial Mediterranean fever	2023-11-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263974	SCV002543719	uncertain significance	Autoinflammatory syndrome	2017-01-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001825529	SCV002087386	uncertain significance	Familial Mediterranean fever	2019-10-28	no assertion criteria provided	clinical testing