ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1622T>C (p.Val541Ala) (rs922232615)

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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 RCV000587448 SCV000696053 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing Variant summary: The c.1622T>C Variant affects a non-conserved nucleotide and results in a replacement of a medium size and hydrophobic Valine (V) with a small size and hydrophobic Alanine (A). 2/4 in silico tools predict the variant to be neutral. The variant is absent from the large and broad cohorts of the ExAC project and to our knowledge, it has not been reported in affected patients either. Due to the lack of clinical data and functional studies, the variant was classified as a variant of uncertain significance until more information becomes available.

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