ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.-2A>G

dbSNP: rs876659342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002346216 SCV001179067 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-10-08 criteria provided, single submitter clinical testing The c.-2A>G variant is located in the 5' untranslated region (5’ UTR) of the NF1 gene. This variant results from an A to G substitution 2 bases upstream from the first translated codon. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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