ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2850+1G>T (rs1131691122)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492190 SCV000581340 pathogenic Hereditary cancer-predisposing syndrome 2016-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation
GeneDx RCV000680816 SCV000808263 likely pathogenic not provided 2018-08-15 criteria provided, single submitter clinical testing The c.2850+1 G>T splice site variant in the NF1 gene has been published as a pathogenic variant in association with neurofibromatosis type 1 (Okumura et al., 2015; Pros et al., 2008). In one study, cDNA analysis demonstrated that this variant results in the activation of two cryptic splice donor sites that both result in in-frame deletions of a portion of exon 21 (Okumura et al., 2015). However, in another study, alternative cDNA analysis demonstrated the use of a different cryptic splice donor site resulting in an out-of-frame deletion causing a loss-of-function frameshift variant (Pros et al., 2008). The c.2850+1 G>T variant is not observed in large population cohorts (Lek et al., 2016). Another splicing variant at this donor splice site (c.2850+1 G>A) has been reported in the Human Gene Mutation Database in association with neurofibromatosis type 1 (Stenson et al., 2014). Therefore, this variant is likely pathogenic.

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