ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.151C>T (p.Leu51Phe) (rs892779197)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756368 SCV000884160 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing The MVK c.151C>T;p.Leu51Phe variant has not been published in the medical literature, but has been listed in a gene-specific database in a symptomatic individual (see link below). The variant is not listed in the ClinVar database or in the dbSNP database, but is listed in the Genome Aggregation Database with an allele frequency of 0.001218 percent (3/246270 alleles). The amino acid at this position is not well conserved across species, but computational algorithms do not reach a consensus (AlignGVGD: C0, PolyPhen2: Possibly Damaging, SIFT: Tolerated). Considering available information, the clinical significance of this variant cannot be determined with certainty. If this variant is later determined to be pathogenic, this individual would be predicted to be at least a carrier of hyper-IgD syndrome (HIDS) or Mevalonate kinase-associated periodic fever syndrome (OMIM#251170). References: Link to MVK c.151C>T variant in InFevers database: http://fmf.igh.cnrs.fr/ISSAID/infevers/detail_mutation.php

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