ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1714del (p.Glu572fs)

dbSNP: rs876660135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221288 SCV000277310 pathogenic Hereditary cancer-predisposing syndrome 2015-07-18 criteria provided, single submitter clinical testing The c.1714delG pathogenic mutation, located in coding exon 15 of the NF1 gene, results from a deletion of one nucleotide at position 1714, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV000697442 SCV000826053 pathogenic Neurofibromatosis, type 1 2021-07-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu572Argfs*14) 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 (ExAC 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: 233017).
Genome-Nilou Lab RCV000697442 SCV002561691 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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