ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1721+5A>G

dbSNP: rs876658961
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222086 SCV000274851 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-30 criteria provided, single submitter clinical testing <span style="font-size:11px"><span style="font-family:arial,helvetica,sans-serif">The c.1721+5A>G intronic variant results from an A to G substitution 5 nucleotides after coding exon 15 in the NF1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position.To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 30000 alleles tested) in our clinical cohort. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this donor splice site; however, direct evidence is unavailable.<span style="color:rgb(54, 43, 54)">Since supporting evidence for this variant is limited at this time, the clinical significance of c.1721+5A>G remains unclear.
GeneDx RCV000603076 SCV000715099 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001067676 SCV001232747 likely benign Neurofibromatosis, type 1 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558505 SCV005047544 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV005016584 SCV005646699 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-04-23 criteria provided, single submitter clinical testing

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