ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.809A>G (p.Asn270Ser) (rs1567237067)

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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 RCV000781528 SCV000919629 uncertain significance not specified 2017-09-19 criteria provided, single submitter clinical testing Variant summary: The MEFV c.809A>G (p.Asn270Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide located in the Zinc finger, RING/FYVE/PHD-type domain (InterPro). 5/5 in silico tools predict a benign outcome for this variant. The variant was not found in the control population dataset of ExAC in 121376 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; 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).

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