ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3565C>G (p.Gln1189Glu)

dbSNP: rs878853884
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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 RCV002319264 SCV001182125 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-03-20 criteria provided, single submitter clinical testing The p.Q1189E variant (also known as c.3565C>G), located in coding exon 27 of the NF1 gene, results from a C to G substitution at nucleotide position 3565. The glutamine at codon 1189 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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