ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6428-3C>G

dbSNP: rs374014162
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UAB Medical Genomics Laboratory, UAB Medicine RCV001007766 SCV001167449 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001007766 SCV001374566 pathogenic Neurofibromatosis, type 1 2023-03-07 criteria provided, single submitter clinical testing This sequence change falls in intron 41 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 clinical features of neurofibromatosis type I (PMID: 18546366, 24232412, 30308447; Invitae). This variant is also known as c.6428-3C>G. ClinVar contains an entry for this variant (Variation ID: 816775). 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: 18546366, 24232412). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268487 SCV001447455 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268487 SCV002007228 pathogenic not provided 2022-10-04 criteria provided, single submitter clinical testing Non-canonical splice site variant demonstrated to result in skipping of exon 42 (Pros 2008); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 18546366, 24232412, 32126153, 30308447)
Genome-Nilou Lab RCV001007766 SCV002560182 likely pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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