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 2024-12-18 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 27322474, 37186028). ClinVar contains an entry for this variant (Variation ID: 1467882). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
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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