ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4578-19A>G

dbSNP: rs1555618994
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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 RCV000632371 SCV000753549 pathogenic Neurofibromatosis, type 1 2024-03-16 criteria provided, single submitter clinical testing This sequence change falls in intron 33 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 32126153; Invitae). ClinVar contains an entry for this variant (Variation ID: 527490). Studies have shown that this variant results in use of a novel splice site and introduces a premature termination codon (PMID: 32126153). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
UAB Medical Genomics Laboratory, UAB Medicine RCV000632371 SCV001167428 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
GeneDx RCV003159144 SCV003853200 pathogenic not provided 2024-09-05 criteria provided, single submitter clinical testing Non-canonical splice site variant demonstrated to result in loss of function (PMID: 32126153); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32126153)

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