ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2851-1G>C

dbSNP: rs1597716274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002556 SCV002237213 pathogenic Neurofibromatosis, type 1 2023-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 22 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 1453712). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type I (PMID: 23913538; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 21 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
Baylor Genetics RCV003471146 SCV004198993 likely pathogenic Juvenile myelomonocytic leukemia 2022-03-04 criteria provided, single submitter clinical testing

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