ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs)

dbSNP: rs2067134697
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290779 SCV001478915 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Human Genetics Bochum, Ruhr University Bochum RCV001290779 SCV002758611 pathogenic Neurofibromatosis, type 1 2021-12-06 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM4, PM2
GeneDx RCV003442822 SCV004169405 pathogenic not provided 2023-05-10 criteria provided, single submitter clinical testing Frameshift 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); This variant is associated with the following publications: (PMID: 31370276, 23913538)
Labcorp Genetics (formerly Invitae), Labcorp RCV001290779 SCV004297465 pathogenic Neurofibromatosis, type 1 2023-08-16 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: 996375). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 23913538). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1116Alafs*25) 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).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001290779 SCV001548492 pathogenic Neurofibromatosis, type 1 2020-01-01 no assertion criteria provided clinical testing

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