ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4946G>A (p.Gly1649Glu)

dbSNP: rs1597829715
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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 RCV002319379 SCV001185039 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-05-31 criteria provided, single submitter clinical testing The p.G1628E variant (also known as c.4883G>A), located in coding exon 36 of the NF1 gene, results from a G to A substitution at nucleotide position 4883. The glycine at codon 1628 is replaced by glutamic acid, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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