ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7811del (p.Leu2604fs)

dbSNP: rs1555536701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002404588 SCV002672152 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-11-16 criteria provided, single submitter clinical testing The c.7748delT pathogenic mutation, located in coding exon 52 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7748, causing a translational frameshift with a predicted alternate stop codon (p.L2583Pfs*20). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with NF1-related disease (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583049 SCV000692368 pathogenic Neurofibromatosis, type 1 2016-03-29 no assertion criteria provided clinical testing

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