ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4658del (p.Pro1553fs)

dbSNP: rs1555619029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660061 SCV000782029 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334224 SCV002638627 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-08-11 criteria provided, single submitter clinical testing The c.4595delC variant, located in coding exon 34 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 4595, causing a translational frameshift with a predicted alternate stop codon (p.P1532Lfs*21). 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 RCV000660061 SCV005763527 pathogenic Neurofibromatosis, type 1 2024-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1532Leufs*21) 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: 547648). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (internal data). For these reasons, this variant has been classified as Pathogenic.

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