ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3037del (p.Thr1013fs)

dbSNP: rs1135402838
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318600 SCV000666732 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2016-05-04 criteria provided, single submitter clinical testing The c.3037delA pathogenic mutation, located in coding exon 23 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 3037, causing a translational frameshift with a predicted alternate stop codon. This mutation has been reported in one Italian patient with Neurofibromatosis type 1 (NF1) (Bianchessi D et al. Mol Genet Genomic Med 2015 Nov;3(6):513-25). In addition to the clinical data presented in the literature, 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).
Invitae RCV000497204 SCV001583744 pathogenic Neurofibromatosis, type 1 2020-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 26740943). ClinVar contains an entry for this variant (Variation ID: 431615). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1013Argfs*6) 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 RCV001568155 SCV001791978 pathogenic not provided 2019-03-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26740943)
Genome-Nilou Lab RCV000497204 SCV002561824 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497204 SCV000588754 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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