ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.205-1G>C

dbSNP: rs1555605362
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Total submissions: 6
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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 RCV000659958 SCV000781865 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659958 SCV000825245 pathogenic Neurofibromatosis, type 1 2023-08-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the NF1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23913538, 25541118). ClinVar contains an entry for this variant (Variation ID: 547564). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 23913538). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002274083 SCV002559451 pathogenic not provided 2023-07-06 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in patients with NF1 referred for genetic testing at GeneDx and in published literature (Sabbagh et al., 2013; Duat Rodrguez et al., 2015); This variant is associated with the following publications: (PMID: 23913538, 25541118, 36988593)
Genome-Nilou Lab RCV000659958 SCV002561558 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002274083 SCV002585629 pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing NF1: PVS1, PM2
Laboratory for Genotyping Development, RIKEN RCV003163039 SCV002758173 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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