ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.913A>G (p.Lys305Glu)

dbSNP: rs1567835041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712408 SCV000842898 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000808179 SCV000948274 uncertain significance Neurofibromatosis, type 1 2022-03-27 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is not expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 586174). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 305 of the NF1 protein (p.Lys305Glu).
Genome-Nilou Lab RCV000808179 SCV002561847 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004993980 SCV005452015 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-08-20 criteria provided, single submitter clinical testing The p.K305E variant (also known as c.913A>G), located in coding exon 9 of the NF1 gene, results from an A to G substitution at nucleotide position 913. The lysine at codon 305 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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