ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter)

dbSNP: rs567988442
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660124 SCV000782114 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440406 SCV001189336 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-06-06 criteria provided, single submitter clinical testing The p.Q2615* pathogenic mutation (also known as c.7843C>T), located in coding exon 53 of the NF1 gene, results from a C to T substitution at nucleotide position 7843. This changes the amino acid from a glutamine to a stop codon within coding exon 53. This alteration was identified in a cohort of Austrian patients fulfilling the NIH criteria for a clinical diagnosis of neurofibromatosis type 1 (NF-1) (Wimmer K et al. Hum. Mutat. 2007 Jun;28:599-612). 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.
Invitae RCV000660124 SCV002187253 pathogenic Neurofibromatosis, type 1 2023-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2615*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 17311297). ClinVar contains an entry for this variant (Variation ID: 547698). RNA analysis provides insufficient evidence to determine the effect of this variant on NF1 splicing (Invitae). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000660124 SCV002560592 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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