ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.297C>T (p.Asn99=)

gnomAD frequency: 0.00016  dbSNP: rs104895175
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000083766 SCV000396785 uncertain significance Familial Mediterranean fever 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588269 SCV000696065 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV000083766 SCV000753994 benign Familial Mediterranean fever 2024-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705809 SCV001156671 benign not provided 2022-09-14 criteria provided, single submitter clinical testing
GeneDx RCV001705809 SCV001868005 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262643 SCV002543750 likely benign Autoinflammatory syndrome 2017-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433593 SCV002750624 likely benign Inborn genetic diseases 2022-05-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004542800 SCV004771814 benign MEFV-related disorder 2019-11-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083766 SCV000115862 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV001276302 SCV001462432 benign Familial Mediterranean fever, autosomal dominant 2020-01-10 no assertion criteria provided clinical testing

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