ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4598del (p.Arg1533fs)

dbSNP: rs1060500292
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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 RCV000474271 SCV000542061 pathogenic Neurofibromatosis, type 1 2016-04-09 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 34 of the NF1 mRNA (c.4535delG), causing a frameshift at codon 1512. This creates a premature translational stop signal (p.Arg1512Asnfs*41) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating 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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