ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4333A>C (p.Ile1445Leu)

dbSNP: rs1555618637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690104 SCV000817781 likely benign Neurofibromatosis, type 1 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332421 SCV002631721 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-04-18 criteria provided, single submitter clinical testing The p.I1424L variant (also known as c.4270A>C) is located in coding exon 32 of the NF1 gene. The isoleucine at codon 1424 is replaced by leucine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 32. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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