ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4044T>A (p.His1348Gln)

dbSNP: rs1315375188
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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 RCV002319308 SCV001183391 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-01-25 criteria provided, single submitter clinical testing The p.H1348Q variant (also known as c.4044T>A), located in coding exon 30 of the NF1 gene, results from a T to A substitution at nucleotide position 4044. The histidine at codon 1348 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well 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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