ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3189T>A (p.Cys1063Ter)

dbSNP: rs1135402841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000497155 SCV002113004 pathogenic Neurofibromatosis, type 1 2021-04-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1063*) 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). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with neurofibromatosis type I (PMID: 28961165). ClinVar contains an entry for this variant (Variation ID: 431620). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002323859 SCV002608160 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-03 criteria provided, single submitter clinical testing The p.C1063* pathogenic mutation (also known as c.3189T>A), located in coding exon 24 of the NF1 gene, results from a T to A substitution at nucleotide position 3189. This changes the amino acid from a cysteine to a stop codon within coding exon 24. This alteration has been reported in a cohort of patients with neurofibromatosis type I (Bonatti F et al. Int J Mol Sci, 2017 Sep;18:). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Medical Genetics, University of Parma RCV000497155 SCV000588759 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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