ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2870del (p.Asn957fs)

dbSNP: rs1555614423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632414 SCV000753593 pathogenic Neurofibromatosis, type 1 2019-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn957Ilefs*5) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with neurofibromatosis type 1 (PMID: 24922668, Invitae). ClinVar contains an entry for this variant (Variation ID: 527526). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002438659 SCV002745921 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-06-01 criteria provided, single submitter clinical testing The c.2870delA pathogenic mutation, located in coding exon 22 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 2870, causing a translational frameshift with a predicted alternate stop codon (p.N957Ifs*5). This mutation has been reported in individuals clinically diagnosed with Neurofibromatosis type 1 (NF1) (Laycock-van Spyk S et al. Hum Genomics, 2011 Oct;5:623-90; Ponti G et al. Anticancer Res, 2014 Jun;34:3021-30). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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