ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)

dbSNP: rs868450405
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334342 SCV001527157 pathogenic Neurofibromatosis, type 1 2023-05-11 criteria provided, single submitter clinical testing
GeneDx RCV001840797 SCV002099592 pathogenic not provided 2022-02-23 criteria provided, single submitter clinical testing Nonsense 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 at significant frequency in large population cohorts (gnomAD); Observed in individuals with suspected or clinically diagnosed neurofibromatosis type 1 and an individual with embryonal rhabdomyosarcoma referred for genetic testing at GeneDx and in published literature (Messiaen et al., 2000; Li et al., 2020); This variant is associated with the following publications: (PMID: 25525159, 10862084, 33372952, 27535533)
Invitae RCV001334342 SCV002241305 pathogenic Neurofibromatosis, type 1 2022-03-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1174*) 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 premature translational stop signal has been observed in individual(s) with clinical feature of neurofibromatosis type 1 and/or embryonal rhabdomyosarcoma (PMID: 10862084, 33372952). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 978806).
Genome-Nilou Lab RCV001334342 SCV002559967 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416134 SCV004114509 pathogenic NF1-related condition 2022-11-23 criteria provided, single submitter clinical testing The NF1 c.3520C>T variant is predicted to result in premature protein termination (p.Gln1174*). This variant has been reported in individuals with neurofibromatosis type 1 (see for example - Messiaen et al. 2000. PubMed ID: 10862084). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NF1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001257535 SCV001434361 likely pathogenic Rhabdomyosarcoma 2020-09-01 no assertion criteria provided provider interpretation

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