ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3917G>A (p.Arg1306Gln)

dbSNP: rs1306237220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632517 SCV000753702 uncertain significance Neurofibromatosis, type 1 2023-07-30 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 527599). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1306 of the NF1 protein (p.Arg1306Gln).
Ambry Genetics RCV004559269 SCV005047787 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-04-14 criteria provided, single submitter clinical testing The p.R1306Q variant (also known as c.3917G>A), located in coding exon 29 of the NF1 gene, results from a G to A substitution at nucleotide position 3917. The arginine at codon 1306 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.

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