ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1641+3A>G (rs754159326)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546664 SCV000628379 uncertain significance Neurofibromatosis, type 1 2019-12-01 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. This variant is present in population databases (rs754159326, ExAC 0.007%). This variant has been reported in an individual affected with neurofibromatosis type 1 (PMID: 16944272). ClinVar contains an entry for this variant (Variation ID: 457540). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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