ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6437A>G (p.Lys2146Arg)

dbSNP: rs1597843678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002354944 SCV001187329 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-09-10 criteria provided, single submitter clinical testing The p.K2125R variant (also known as c.6374A>G), located in coding exon 42 of the NF1 gene, results from an A to G substitution at nucleotide position 6374. The lysine at codon 2125 is replaced by arginine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001238001 SCV001410795 uncertain significance Neurofibromatosis, type 1 2022-05-06 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"). ClinVar contains an entry for this variant (Variation ID: 826361). 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 2125 of the NF1 protein (p.Lys2125Arg).
Genome-Nilou Lab RCV001238001 SCV002560964 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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