ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.233A>G (p.Asn78Ser) (rs145015653)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000215498 SCV000279300 uncertain significance not provided 2015-04-15 criteria provided, single submitter clinical testing The N78S variant in the MEFV gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The N78S variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The N78S variant is a conservative amino acid substitution, which occurs at a position within the DAPIN domain that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. A missense mutation in a nearby residue (E84K) has been reported in the Human Gene Mutation Database in association with familial Mediterranean fever (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret N78S as a variant of unknown significance
Illumina Clinical Services Laboratory,Illumina RCV001121438 SCV001280050 uncertain significance Familial Mediterranean fever 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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