ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5269-19C>A

dbSNP: rs755620051
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UAB Medical Genomics Laboratory, UAB Medicine RCV001007718 SCV001167390 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001007718 SCV004640855 uncertain significance Neurofibromatosis, type 1 2024-01-16 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 clinical features of NF1-related conditions (PMID: 32126153). ClinVar contains an entry for this variant (Variation ID: 816732). Studies have shown that this variant is associated with inconclusive levels of altered splicing (PMID: 32126153). 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.
Baylor Genetics RCV004569851 SCV005052328 likely pathogenic Juvenile myelomonocytic leukemia 2023-11-23 criteria provided, single submitter clinical testing

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