ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6011C>T (p.Thr2004Ile)

dbSNP: rs1597842207
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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 RCV002346222 SCV001186779 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-07-22 criteria provided, single submitter clinical testing The p.T1983I variant (also known as c.5948C>T), located in coding exon 40 of the NF1 gene, results from a C to T substitution at nucleotide position 5948. The threonine at codon 1983 is replaced by isoleucine, 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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