ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5947A>G (p.Ile1983Val)

gnomAD frequency: 0.00001  dbSNP: rs876658484
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215805 SCV000273776 uncertain significance Hereditary cancer-predisposing syndrome 2015-01-29 criteria provided, single submitter clinical testing The p.I1983V variant (also known as c.5947A>G or p.I1962V or c.5884A>G), located in coding exon 40 of the NF1 gene, results from an A to G substitution at nucleotide position 5947. The isoleucine at codon 1983 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 30000alleles tested) in our clinical cohort.This amino acid position is highly 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 p.I1983Vremains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632511 SCV000753696 likely benign Neurofibromatosis, type 1 2024-12-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000632511 SCV002560921 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558484 SCV005048269 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-11-30 criteria provided, single submitter clinical testing The c.5884A>G (p.I1962V) alteration is located in exon 39 (coding exon 39) of the NF1 gene. This alteration results from a A to G substitution at nucleotide position 5884, causing the isoleucine (I) at amino acid position 1962 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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