ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)

dbSNP: rs104895105
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000083696 SCV001139855 uncertain significance Familial Mediterranean fever 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001562614 SCV001785405 uncertain significance not provided 2022-06-21 criteria provided, single submitter clinical testing Reported in published literature in individuals from a family with an autosomal dominant periodic inflammatory disorder with renal AA amyloidosis and was found to exclusively co-segregate with the disease in all individuals tested (Aldea et al., 2004); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19479870, 22614345, 18328141, 29260407, 23844200, 23031807, 27225717, 15024744, 14679589)
Labcorp Genetics (formerly Invitae), Labcorp RCV000083696 SCV002300876 uncertain significance Familial Mediterranean fever 2022-08-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2557). This missense change has been observed in individual(s) with familial Mediterranean fever (PMID: 14679589). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 478 of the MEFV protein (p.His478Tyr).
CeGaT Center for Human Genetics Tuebingen RCV001562614 SCV002563301 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing MEFV: PM2, PP1:Moderate, PP4, BP4
Genome-Nilou Lab RCV000083696 SCV003802130 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000002666 SCV003802131 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003125827 SCV003802132 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
OMIM RCV000002666 SCV000022824 pathogenic Familial Mediterranean fever, autosomal dominant 2004-01-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083696 SCV000115784 not provided Familial Mediterranean fever no assertion provided not provided

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