ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.359C>T (p.Thr120Ile) (rs772698222)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590076 SCV000696069 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing Variant summary: The MEFV c.359C>T (p.Thr120Ile) variant involves the alteration of a non-conserved nucleotide and is predicted to be benign by 3/4 in silico tools (SNPs&GO not captured due to low reliability index). It is located outside of some of the known domains in MEFV protein (InterPro). This variant was found in 1/115262 control chromosomes from ExAC at a frequency of 0.0000087, which does not exceed the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506). 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. It has been reported once in a symptomatic case in FMF database without details of genotypic/phenotypic data and its consequence is reported as unknown in the database. Taken together, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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