ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5269-38A>G

dbSNP: rs2151540615
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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 RCV001968719 SCV002255811 likely pathogenic Neurofibromatosis, type 1 2020-11-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant is associated with exon 38 and 39 skipping, which introduces a frameshift (PMID: 27322474). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 27322474). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 36 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Baylor Genetics RCV003471211 SCV004190807 likely pathogenic Juvenile myelomonocytic leukemia 2022-05-06 criteria provided, single submitter clinical testing
GeneDx RCV004719213 SCV005325653 likely pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: patient-derived cDNA demonstrated two aberrant transcripts both leading to a frameshift and premature truncation (Evans et al., 2016); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27322474)

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