ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.289C>T (p.Gln97Ter) (rs747515115)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000293866 SCV000396786 uncertain significance Familial Mediterranean fever 2017-04-27 criteria provided, single submitter clinical testing The MEFV c.289C>T (p.Gln97Ter) variant is a stop-gained variant that is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00002 in the European (non-Finnish) population from the Exome Aggregation Consortium but this is based on one allele in a region of good sequence coverage so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for familial Mediterranean fever. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000293866 SCV000938741 pathogenic Familial Mediterranean fever 2018-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln97*) in the MEFV gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747515115, ExAC 0.002%). This variant has been reported in individuals in the Infevers Database (PMID: 29599418), and Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 319117). Loss-of-function variants in MEFV are known to be pathogenic (PMID: 23226472, 24469716, 28690860). For these reasons, this variant has been classified as Pathogenic.

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