ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7925C>T (p.Ser2642Phe) (rs786202579)

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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 RCV000165454 SCV000216184 uncertain significance Hereditary cancer-predisposing syndrome 2014-09-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Other data supporting benign classification
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222036 SCV000272224 uncertain significance not specified 2016-01-12 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser2663Phe va riant in NF1 has been identified by our laboratory in 1 individual with a possib le myelodysplasia, which can be explained by another etiology. This NF1 variant was inherited from an unaffected parent. It was absent from large population stu dies (dbSNP rs786202579). Computational prediction tools and conservation analys is do not provide strong support for or against an impact to the protein. In sum mary, while the clinical significance of the p.Ser2663Phe variant is uncertain, these data suggest that it is more likely to benign.

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