ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4015C>T (p.Leu1339Phe)

dbSNP: rs876660466
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319305 SCV001183310 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-05-24 criteria provided, single submitter clinical testing The p.L1339F variant (also known as c.4015C>T), located in coding exon 30 of the NF1 gene, results from a C to T substitution at nucleotide position 4015. The leucine at codon 1339 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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