ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.276del (p.Lys92fs)

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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 RCV002439597 SCV002747196 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-15 criteria provided, single submitter clinical testing The c.276delA pathogenic mutation, located in coding exon 3 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 276, causing a translational frameshift with a predicted alternate stop codon (p.K92Nfs*11). This alteration has been observed in at least one individual with a personal history that is consistent with neurofibromatosis type I (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003598134 SCV004487943 pathogenic Neurofibromatosis, type 1 2023-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys92Asnfs*11) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1795787). For these reasons, this variant has been classified as Pathogenic.

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