ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.369C>A (p.His123Gln) (rs587783379)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589662 SCV000696066 uncertain significance not provided 2017-03-14 criteria provided, single submitter clinical testing Variant summary: The MEFV c.369C>A (p.His123Gln) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant . This variant is absent in 114684 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000148289 SCV000943887 uncertain significance Familial Mediterranean fever 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 123 of the MEFV protein (p.His123Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Infevers database (PMID: 18409191). ClinVar contains an entry for this variant (Variation ID: 161092). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Medical Genetics of Dicle University RCV000148289 SCV000195552 not provided Familial Mediterranean fever no assertion provided not provided

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