ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7171del (p.Val2391fs)

dbSNP: rs2151565274
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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 RCV002368157 SCV002662635 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-06-19 criteria provided, single submitter clinical testing The c.7108delG pathogenic mutation, located in coding exon 47 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7108, causing a translational frameshift with a predicted alternate stop codon (p.V2370Lfs*5). 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.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001353260 SCV001548476 pathogenic Neurofibromatosis, type 1 2020-01-01 no assertion criteria provided clinical testing

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