ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7869+4A>G

dbSNP: rs1567627046
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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 RCV000706381 SCV000835426 uncertain significance Neurofibromatosis, type 1 2023-06-27 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Inviate). ClinVar contains an entry for this variant (Variation ID: 582333). This variant has been observed in individual(s) with NF1-related conditions (PMID: 23913538). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 52 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. It affects a nucleotide within the consensus splice site. 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.
GeneDx RCV004702360 SCV005202063 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 23913538)

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