ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.952del (p.Glu318fs)

dbSNP: rs1555610881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549119 SCV000628829 pathogenic Neurofibromatosis, type 1 2022-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 457877). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 21520333, 23656349). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu318Lysfs*58) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).
Baylor Genetics RCV003470729 SCV004190777 pathogenic Juvenile myelomonocytic leukemia 2022-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559165 SCV005048899 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-29 criteria provided, single submitter clinical testing The c.952delG pathogenic mutation, located in coding exon 9 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 952, causing a translational frameshift with a predicted alternate stop codon (p.E318Kfs*58). This alteration was identified amongst a cohort of 1985 patients with a clinical diagnosis or symptoms of NF1 (van Minkelen R et al. Clin Genet, 2014 Apr;85:318-27). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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