ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.706dup (p.Gln236fs)

dbSNP: rs1597658661
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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 RCV002400195 SCV001188297 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-10-10 criteria provided, single submitter clinical testing The c.706dupC pathogenic mutation, located in coding exon 7 of the NF1 gene, results from a duplication of C at nucleotide position 706, causing a translational frameshift with a predicted alternate stop codon (p.Q236Pfs*6). 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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