ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7063-1G>T

dbSNP: rs1131691114
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311238 SCV000581318 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2016-04-20 criteria provided, single submitter clinical testing The c.7000-1G>T intronic pathogenic mutation results from a G to T substitution one nucleotide upstream from coding exon 47 of the NF1 gene. Another pathogenic mutation at the same nucleotide position (c.7000-1G>A) has been described in a proband with NF1 (Sabbagh A et al. Hum. Mutat. 2013 Nov; 34(11):1510-8). In addition to the clinical data presented in the literature, since alterations that disrupt the canonical splice acceptor site 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 RCV000797153 SCV000936696 pathogenic Neurofibromatosis, type 1 2019-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in individuals with neurofibromatosis type 1 (PMID: 23913538, Invitae). ClinVar contains an entry for this variant (Variation ID: 428994). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 46 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237882 SCV002009288 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000797153 SCV002560232 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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