ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3075del (p.Arg1026fs)

dbSNP: rs1555614526
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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 RCV000557782 SCV000628486 pathogenic Neurofibromatosis, type 1 2017-04-22 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 23 of the NF1 mRNA (c.3075delG), causing a frameshift at codon 1026. This creates a premature translational stop signal (p.Arg1026Glufs*10) and is expected to result in an absent or disrupted protein product. 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). For these reasons, this variant has been classified as Pathogenic.

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