ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7063-3T>G

dbSNP: rs1241158120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UAB Medical Genomics Laboratory, UAB Medicine RCV001007767 SCV001167450 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001007767 SCV004641392 uncertain significance Neurofibromatosis, type 1 2023-10-23 criteria provided, single submitter clinical testing This sequence change falls in intron 46 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis (PMID: 32126153). ClinVar contains an entry for this variant (Variation ID: 816776). 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 (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.

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