ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)

gnomAD frequency: 0.00011  dbSNP: rs764274816
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520467 SCV000619168 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing The D391N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 4/10336 (0.039%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). D391N is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001209535 SCV001380975 uncertain significance Familial Mediterranean fever 2024-07-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 391 of the MEFV protein (p.Asp391Asn). This variant is present in population databases (rs764274816, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of MEFV-related conditions (PMID: 21520333, 35358658). ClinVar contains an entry for this variant (Variation ID: 450568). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV000520467 SCV001500048 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506272 SCV002797542 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001209535 SCV003802180 likely benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126793 SCV003802181 benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126794 SCV003802182 benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000520467 SCV004565085 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing The MEFV c.1171G>A; p.Asp391Asn variant (rs764274816), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 450568). This variant is observed in the general population with an overall allele frequency of 0.004% (11/282670 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.065). Due to limited information, the clinical significance of this variant is uncertain at this time.
Natera, Inc. RCV001209535 SCV002087414 uncertain significance Familial Mediterranean fever 2019-10-28 no assertion criteria provided clinical testing

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