ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002304267 SCV002589546 uncertain significance Neurofibromatosis, type 1 2022-07-21 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. 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 arginine, which is basic and polar, at codon 40 of the NF1 protein (p.Lys40Arg).
Ambry Genetics RCV002346580 SCV002644951 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-03-08 criteria provided, single submitter clinical testing The p.K40R variant (also known as c.119A>G), located in coding exon 2 of the NF1 gene, results from an A to G substitution at nucleotide position 119. The lysine at codon 40 is replaced by arginine, 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.
Baylor Genetics RCV004572128 SCV005052263 uncertain significance Juvenile myelomonocytic leukemia 2024-01-15 criteria provided, single submitter clinical testing

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