ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.256A>G (p.Ile86Val)

gnomAD frequency: 0.00001  dbSNP: rs757057811
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702860 SCV000831732 likely benign Neurofibromatosis, type 1 2024-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319093 SCV001176880 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-06-29 criteria provided, single submitter clinical testing The p.I86V variant (also known as c.256A>G), located in coding exon 3 of the NF1 gene, results from an A to G substitution at nucleotide position 256. The isoleucine at codon 86 is replaced by valine, an amino acid with highly similar properties. 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 this alteration remains unclear.
Genome-Nilou Lab RCV000702860 SCV002561429 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
New York Genome Center RCV000702860 SCV004176195 uncertain significance Neurofibromatosis, type 1 2023-07-24 criteria provided, single submitter clinical testing

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