ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7169T>G (p.Leu2390Trp)

dbSNP: rs1597851443
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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 RCV002400201 SCV001188354 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-10-15 criteria provided, single submitter clinical testing The p.L2369W variant (also known as c.7106T>G), located in coding exon 47 of the NF1 gene, results from a T to G substitution at nucleotide position 7106. The leucine at codon 2369 is replaced by tryptophan, an amino acid with similar properties. This variant was identified in an individual meeting clinical diagnostic criteria for neurofibromatosis type 1 (Calì F et al. Eur J Med Genet, 2017 Feb;60:93-99). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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