ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.*1A>C

gnomAD frequency: 0.00006  dbSNP: rs876658388
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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 RCV000219667 SCV000273528 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-18 criteria provided, single submitter clinical testing The c.*1A>C variant is located in the 3' untranslated region (3’ UTR) of the NF1 gene. This variant results from an A to C substitution one nucleotide after the last translated exon. 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 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.006% (greater than 110000 alleles tested) in our clinical cohort. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of c.*1A>C remains unclear.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290948 SCV001479278 uncertain significance Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001564253 SCV001787389 likely benign not provided 2019-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558482 SCV005047510 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-06-08 criteria provided, single submitter clinical testing The c.*1A>C alteration is located in the 3' untranslated region (3'UTR) of the NF1 gene. This alteration consists of a deletion of 1 nucleotides after the last coding exon of the NF1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701281 SCV005203951 uncertain significance not specified 2024-06-24 criteria provided, single submitter clinical testing Variant summary: NF1 c.*1A>C is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 2e-05 in 251326 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*1A>C in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 230101). Based on the evidence outlined above, the variant was classified as uncertain significance.

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