ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.404G>A (p.Arg135Gln)

gnomAD frequency: 0.00001  dbSNP: rs1060500244
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456876 SCV000541967 likely benign Neurofibromatosis, type 1 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318496 SCV000666784 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-30 criteria provided, single submitter clinical testing The p.R135Q variant (also known as c.404G>A), located in coding exon 4 of the NF1 gene, results from a G to A substitution at nucleotide position 404. The arginine at codon 135 is replaced by glutamine, 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.
PreventionGenetics, part of Exact Sciences RCV000679388 SCV000806279 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000679388 SCV001793254 uncertain significance not provided 2020-05-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); 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: 28481359)
Genome-Nilou Lab RCV000456876 SCV002561453 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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