ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2064dup (p.Val689fs)

dbSNP: rs1555613786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528061 SCV000628409 pathogenic Neurofibromatosis, type 1 2017-02-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This sequence change inserts 1 nucleotide in exon 18 of the NF1 mRNA (c.2064dupA), causing a frameshift at codon 689. This creates a premature translational stop signal (p.Val689Serfs*11) and is expected to result in an absent or disrupted protein product.

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