ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)

dbSNP: rs1597866846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000953 SCV001158052 likely pathogenic not specified 2018-12-13 criteria provided, single submitter clinical testing The NF1 c.7895A>G; p.Asp2632Gly variant (also reported as c.7832A>G for NM_000267.3) is reported in the literature in an individual with neurofibromatosis 1 (Sabbagh 2013). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. Sabbagh et al. performed cDNA sequencing of the reversely transcribed mRNA. The c.7895A>G variant resulted in skipping of exon 54, leading to an out of frame protein product (Sabbagh 2013). Based on the Sabbagh 2013 published results, this variant is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered likely pathogenic. REFERENCES Sabbagh A et al. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat. 2013 Nov;34(11):1510-8.
Baylor Genetics RCV003467561 SCV004190793 pathogenic Juvenile myelomonocytic leukemia 2022-07-28 criteria provided, single submitter clinical testing

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