ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.17C>A (p.Pro6Gln)

dbSNP: rs864622210
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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 RCV002407869 SCV002716926 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-02-19 criteria provided, single submitter clinical testing The p.P6Q variant (also known as c.17C>A), located in coding exon 1 of the NF1 gene, results from a C to A substitution at nucleotide position 17. The proline at codon 6 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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