ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) (rs147557169)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221844 SCV000279025 uncertain significance not provided 2017-04-07 criteria provided, single submitter clinical testing The P115T variant has been reported in a symptomatic patient with a periodic fever syndrome. The P115T variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, the P115T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is variable across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant
Illumina Clinical Services Laboratory,Illumina RCV000083246 SCV000396783 uncertain significance Familial Mediterranean fever 2016-06-14 criteria provided, single submitter clinical testing
Medical Biology Lab, Gaziantep University RCV000083246 SCV000115320 not provided Familial Mediterranean fever no assertion provided not provided

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