ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7315T>A (p.Leu2439Ile)

dbSNP: rs1597858629
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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 RCV002416295 SCV001188539 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-09-03 criteria provided, single submitter clinical testing The p.L2418I variant (also known as c.7252T>A), located in coding exon 48 of the NF1 gene, results from a T to A substitution at nucleotide position 7252. The leucine at codon 2418 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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