ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1429T>C (p.Phe477Leu) (rs1555612276)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756431 SCV000884249 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing The NF1 c.1429T>C;p.Phe477Leu variant has not been described in the medical literature or in gene-specific databases. The variant is not listed in the ClinVar database, the dbSNP variant database, or in the general population-based databases (Exome Variant Server, Genome Aggregation Database). The amino acid at this position is well conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. Considering available information, there is insufficient information to classify this variant with certainty.
Ambry Genetics RCV000575413 SCV000670547 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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