ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3867C>G (p.Phe1289Leu) (rs138186428)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167100 SCV000217930 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000426217 SCV000536292 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing The F1289L variant in the NF1 gene has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Phenylalanine and Leucine share similar properties, this is considered a conservative amino acid substitution. The F1289L variant occurs at a position that is conserved across species and is located in Ras-GAP domain (Uniprot). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, we consider F1289L to be a variant of uncertain significance.

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