ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2411del (p.Ala804fs)

dbSNP: rs1555614180
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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 RCV000546417 SCV000628439 pathogenic Neurofibromatosis, type 1 2017-04-25 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 deletes 1 nucleotide from exon 21 of the NF1 mRNA (c.2411delC), causing a frameshift at codon 804. This creates a premature translational stop signal (p.Ala804Valfs*17) and is expected to result in an absent or disrupted protein product.

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