ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.520del (p.Val174fs)

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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 RCV002340774 SCV002640576 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-07-16 criteria provided, single submitter clinical testing The c.520delG pathogenic mutation, located in coding exon 5 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 520, causing a translational frameshift with a predicted alternate stop codon (p.V174Ffs*4). 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 RCV005096752 SCV005748914 pathogenic Neurofibromatosis, type 1 2024-04-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val174Phefs*4) 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: 1746093). For these reasons, this variant has been classified as Pathogenic.

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