ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5329del (p.Val1777fs)

dbSNP: rs2069377259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290802 SCV001478959 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339716 SCV002643857 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-07-16 criteria provided, single submitter clinical testing The c.5266delG pathogenic mutation, located in coding exon 37 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 5266, causing a translational frameshift with a predicted alternate stop codon (p.V1756Sfs*3). 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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