ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.288G>T (p.Gly96=)

gnomAD frequency: 0.00001  dbSNP: rs1430988476
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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 RCV001040432 SCV001204007 pathogenic Neurofibromatosis, type 1 2024-04-20 criteria provided, single submitter clinical testing This sequence change affects codon 96 of the NF1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NF1 protein. This variant also falls at the last nucleotide of exon 3, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis type I (PMID: 16944272; Invitae; External communication). ClinVar contains an entry for this variant (Variation ID: 838808). 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.
GeneDx RCV001799724 SCV002043824 likely pathogenic not provided 2023-11-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 16944272)

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