ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1611C>A (p.His537Gln)

dbSNP: rs1597703539
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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 RCV002319167 SCV001172858 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-05-20 criteria provided, single submitter clinical testing The p.H537Q variant (also known as c.1611C>A), located in coding exon 14 of the NF1 gene, results from a C to A substitution at nucleotide position 1611. The histidine at codon 537 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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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