ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2229dup (p.Val744fs)

dbSNP: rs2067020544
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243294 SCV001416441 pathogenic Neurofibromatosis, type 1 2024-09-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val744Cysfs*24) 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 premature translational stop signal has been observed in individual(s) with clinical features of NF1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 968211). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004557484 SCV005047535 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-02-14 criteria provided, single submitter clinical testing The c.2229dupT variant, located in coding exon 18 of the NF1 gene, results from a duplication of T at nucleotide position 2229, causing a translational frameshift with a predicted alternate stop codon (p.V744Cfs*24). 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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