ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4773-3T>C (rs372460369)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507172 SCV000604515 uncertain significance not specified 2016-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164079 SCV000214689 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000462064 SCV000542008 uncertain significance Neurofibromatosis, type 1 2019-01-15 criteria provided, single submitter clinical testing This sequence change falls in intron 35 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs372460369, ExAC 0.03%). This variant has not been reported in the literature in individuals with NF1-related disease. ClinVar contains an entry for this variant (Variation ID: 184766). Nucleotide substitutions within 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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