ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs)

dbSNP: rs1597858594
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816568 SCV000957084 pathogenic Neurofibromatosis, type 1 2022-11-16 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: 659543). This premature translational stop signal has been observed in individual(s) with a diagnosis or clinical suspicion of neurofibromatosis type 1 (PMID: 18546366). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2414Argfs*12) 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).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000816568 SCV001478919 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001548109 SCV001767963 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18546366, 33443663)
Genome-Nilou Lab RCV000816568 SCV002560566 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372307 SCV002672453 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-09-11 criteria provided, single submitter clinical testing The c.7240_7241delAG pathogenic mutation, located in coding exon 48 of the NF1 gene, results from a deletion of two nucleotides at nucleotide positions 7240 to 7241, causing a translational frameshift with a predicted alternate stop codon (p.S2414Rfs*12). This mutation was detected in an individual with either a diagnosis or clinical suspicion of Neurofibromatosis type 1 (NF1) (Pros E et al. Hum. Mutat., 2008 Sep;29:E173-93). 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.
Baylor Genetics RCV003461239 SCV004199018 pathogenic Juvenile myelomonocytic leukemia 2021-08-20 criteria provided, single submitter clinical testing

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