ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter)

dbSNP: rs2069602711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035120 SCV001198435 pathogenic Neurofibromatosis, type 1 2022-10-07 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: 834435). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 21362601). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1933*) 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).
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001035120 SCV002584614 pathogenic Neurofibromatosis, type 1 2022-09-06 criteria provided, single submitter clinical testing The NF1 c.5798C>G (p.Ser1933Ter) change is a nonsense variant that is predicted to cause premature protein truncation or absence of the protein due to nonsense mediated decay. This variant has been observed in individuals with Neurofibromatosis type 1 (PMID: 21362601, internal data). This variant is also known as p.Ser1954Ter in the literature. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 9003501, 10712197). In summary, this variant meets criteria to be classified as pathogenic.
Ambry Genetics RCV002354972 SCV002651969 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-06-21 criteria provided, single submitter clinical testing The p.S1933* pathogenic mutation (also known as c.5798C>G), located in coding exon 39 of the NF1 gene, results from a C to G substitution at nucleotide position 5798. This changes the amino acid from a serine to a stop codon within coding exon 39. 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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