ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3665del (p.Pro1222fs) (rs867391752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757564 SCV000885850 pathogenic not specified 2018-12-12 criteria provided, single submitter clinical testing The NF1 c.3665delC; p.Pro1222fs variant (rs867391752) has been described in at least one individual affected with neurofibromatosis type 1 (Bonatti 2017). It is reported as pathogenic by one laboratory in ClinVar (Variation ID: 431627) and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant creates a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered pathogenic. References: Bonatti F et al. Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I. Int J Mol Sci. 2017 Sep 29;18(10).
Medical Genetics, University of Parma RCV000497113 SCV000588767 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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