ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) (rs104895121)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598725 SCV000710216 uncertain significance not specified 2017-12-07 criteria provided, single submitter clinical testing The c.383_391dupAGGGGAACG variant has been reported previously in the Infevers database. The variant is observed in 1/9714 (0.01%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The variant results in an in-frame duplication of three amino acids that are not conserved across species. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Mendelics RCV000083773 SCV001139893 uncertain significance Familial Mediterranean fever 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090252 SCV001245678 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000083773 SCV001394201 uncertain significance Familial Mediterranean fever 2019-10-16 criteria provided, single submitter clinical testing This variant, c.383_391dup, results in the insertion of 3 amino acid(s) to the MEFV protein (p.Glu128_Asn130dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752170064, ExAC 0.005%). This variant has not been reported in the literature in individuals with MEFV-related conditions. ClinVar contains an entry for this variant (Variation ID: 97521). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083773 SCV000115869 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083773 SCV001457156 uncertain significance Familial Mediterranean fever 2020-09-16 no assertion criteria provided clinical testing

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