ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)

gnomAD frequency: 0.00004  dbSNP: rs200594167
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315776 SCV000663227 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-08-29 criteria provided, single submitter clinical testing The p.V1120L variant (also known as c.3358G>C), located in coding exon 26 of the NF1 gene, results from a G to C substitution at nucleotide position 3358. The valine at codon 1120 is replaced by leucine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001237795 SCV001410571 likely benign Neurofibromatosis, type 1 2024-04-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001237795 SCV002560285 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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