ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) (rs782439813)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487196 SCV000565077 uncertain significance not specified 2017-02-08 criteria provided, single submitter clinical testing The P199L variant in the IQSEC2 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The P199L variant was not observed in approximately 2100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P199L variant is a semi-conservative amino acid substitution, which occurs at a position that is conserved across vertebrate species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P199L as a variant of unknown significance.
Fulgent Genetics,Fulgent Genetics RCV000766097 SCV000897574 uncertain significance Mental retardation, X-linked 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000945870 SCV001091934 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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