ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3821dup (p.Phe1275fs)

dbSNP: rs786203614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167004 SCV000217827 pathogenic Hereditary cancer-predisposing syndrome 2014-12-08 criteria provided, single submitter clinical testing The c.3821dupT pathogenic mutation, located in coding exon 28 of the NF1 gene, results from a duplication of T at nucleotide position 3821, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV001050019 SCV001214105 pathogenic Neurofibromatosis, type 1 2019-05-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 187286). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe1275Leufs*9) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV001050019 SCV002559992 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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