ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5944-1G>C (rs1555534596)

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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 RCV000567211 SCV000666733 pathogenic Hereditary cancer-predisposing syndrome 2016-05-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
GeneDx RCV000497946 SCV000589604 likely pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The c.5944-1 G>C splice site variant in the NF1 gene has been previously reported in association with neurofibromatosis type 1 (Mattocks et al., 2004). This variant destroys the canonical splice acceptor site in intron 39, and is expected to cause abnormal gene splicing. However, the adjacent exon 40 remains in frame. The c.5944-1 G>C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be likely pathogenic.

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