ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5156T>C (p.Ile1719Thr)

dbSNP: rs1597830137
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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 RCV002319398 SCV001185424 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-05-21 criteria provided, single submitter clinical testing The p.I1698T variant (also known as c.5093T>C), located in coding exon 36 of the NF1 gene, results from a T to C substitution at nucleotide position 5093. The isoleucine at codon 1698 is replaced by threonine, an amino acid with 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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