ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val)

gnomAD frequency: 0.00001  dbSNP: rs774720054
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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 RCV002315850 SCV000674104 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-11-26 criteria provided, single submitter clinical testing The p.I1688V variant (also known as c.5062A>G), located in coding exon 36 of the NF1 gene, results from an A to G substitution at nucleotide position 5062. The isoleucine at codon 1688 is replaced by valine, an amino acid with highly similar properties. 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 this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001068057 SCV001233146 benign Neurofibromatosis, type 1 2024-09-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001068057 SCV002560510 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV004787962 SCV005401306 uncertain significance not provided 2024-05-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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