ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile)

gnomAD frequency: 0.00001  dbSNP: rs786203848
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167335 SCV000218186 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-10 criteria provided, single submitter clinical testing The p.V2609I variant (also known as c.7825G>A), located in coding exon 53 of the NF1 gene, results from a G to A substitution at nucleotide position 7825. The valine at codon 2609 is replaced by isoleucine, 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 0.002% (greater than 110000 alleles tested) in our clinical cohort. This amino acid position is highly 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 p.V2609I remains unclear.
GeneDx RCV000681023 SCV000808473 uncertain significance not provided 2021-11-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365)
Labcorp Genetics (formerly Invitae), Labcorp RCV000693562 SCV000821435 likely benign Neurofibromatosis, type 1 2025-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000693562 SCV002561139 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558415 SCV005048622 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-08-10 criteria provided, single submitter clinical testing The c.7762G>A (p.V2588I) alteration is located in exon 52 (coding exon 52) of the NF1 gene. This alteration results from a G to A substitution at nucleotide position 7762, causing the valine (V) at amino acid position 2588 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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