ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1826A>G (p.Lys609Arg)

dbSNP: rs1597708810
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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 RCV000816587 SCV000957104 uncertain significance Neurofibromatosis, type 1 2018-09-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 609 of the NF1 protein (p.Lys609Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine.
Ambry Genetics RCV004994049 SCV005459703 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-11-22 criteria provided, single submitter clinical testing The p.K609R variant (also known as c.1826A>G), located in coding exon 16 of the NF1 gene, results from an A to G substitution at nucleotide position 1826. The lysine at codon 609 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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