ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3102_3103del (p.Glu1034fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004994600 SCV005452025 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-08-22 criteria provided, single submitter clinical testing The c.3102_3103delGA pathogenic mutation, located in coding exon 23 of the NF1 gene, results from a deletion of two nucleotides at nucleotide positions 3102 to 3103, causing a translational frameshift with a predicted alternate stop codon (p.E1034Dfs*4). This variant has been observed in at least one individual with a personal and/or family history that is consistent with neurofibromatosis type 1 (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.

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