ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)

dbSNP: rs766011053
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Total submissions: 5
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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 RCV000659970 SCV000781884 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659970 SCV001233444 pathogenic Neurofibromatosis, type 1 2021-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 547574). This premature translational stop signal has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 10874316). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln315*) 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).
GeneDx RCV001584518 SCV001812608 pathogenic not provided 2021-06-16 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 a significant frequency in large population cohorts (Lek 2016); Published functional studies demonstrate a damaging effect: aberrant splicing with skipping of exon 9 (also published as exon 7) (Zatkova 2004, Hernandez-Imaz 2015); This variant is associated with the following publications: (PMID: 10874316, 27535533, 17981615, 19339519, 15523642, 26509978, 25525159)
Genome-Nilou Lab RCV000659970 SCV002561613 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital RCV004556064 SCV005045320 pathogenic Neurofibromatosis-Noonan syndrome 2024-02-01 no assertion criteria provided clinical testing

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