ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5812+5G>A

dbSNP: rs1555533889
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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 RCV000556939 SCV000628678 pathogenic Neurofibromatosis, type 1 2023-12-06 criteria provided, single submitter clinical testing This sequence change falls in intron 38 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 type 1 (PMID: 17311297, 18546366; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 457764). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Medical Genetics, University of Parma RCV000556939 SCV002567809 pathogenic Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing

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