ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002359795 SCV002651968 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-10-23 criteria provided, single submitter clinical testing The p.S1933* pathogenic mutation (also known as c.5798C>A), located in coding exon 39 of the NF1 gene, results from a C to A 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.
Baylor Genetics RCV003471350 SCV004199007 likely pathogenic Juvenile myelomonocytic leukemia 2021-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003495284 SCV004308654 pathogenic Neurofibromatosis, type 1 2023-09-20 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: 1749687). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10862084, 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).

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