ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2126_2135delinsCC (p.Cys709fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003486390 SCV004239082 likely pathogenic Neurofibromatosis, type 1 2023-08-28 criteria provided, single submitter clinical testing This NF1 variant is absent from a large population dataset, and has not been reported in ClinVar nor the literature, to our knowledge. This frameshift variant results in a premature stop codon in exon 18 of 58, likely leading to nonsense-mediated decay and lack of protein production. We consider c.2126_2135delinsCC; p.Cys709fs in NF1 to be likely pathogenic.

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