Submissions for variant NM_000243.3(MEFV):c.372C>T (p.Pro124=)

gnomAD frequency: 0.00035  dbSNP: rs104895078

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000083771	SCV000396782	uncertain significance	Familial Mediterranean fever	2018-01-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705810	SCV000604192	benign	not provided	2022-04-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000507322	SCV000696070	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Invitae	RCV000083771	SCV001014339	likely benign	Familial Mediterranean fever	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001705810	SCV001851473	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262646	SCV002543445	uncertain significance	Autoinflammatory syndrome	2021-04-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345406	SCV002620346	likely benign	Inborn genetic diseases	2022-05-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705810	SCV004184525	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	MEFV: BP4, BP7
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083771	SCV000115867	not provided	Familial Mediterranean fever		no assertion provided	not provided
Natera, Inc.	RCV000083771	SCV001462430	likely benign	Familial Mediterranean fever	2020-05-04	no assertion criteria provided	clinical testing