ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr) (rs200646155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766527 SCV000241887 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing The F250Y missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant is a non-conservative amino acid substitution of a non-polar Phenylalanine residue with a polar Tyrosine residue at a position that is conserved in mammals; however, Tyrosine is observed at this position in vertebrates. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether F250Y is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).
Genetic Services Laboratory, University of Chicago RCV000188276 SCV000248290 uncertain significance not specified 2015-07-24 criteria provided, single submitter clinical testing

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