ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile)

dbSNP: rs1555615024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315815 SCV000663272 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-09-06 criteria provided, single submitter clinical testing The p.T1175I variant (also known as c.3524C>T), located in coding exon 27 of the NF1 gene, results from a C to T substitution at nucleotide position 3524. The threonine at codon 1175 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.
Baylor Genetics RCV003459299 SCV004198407 uncertain significance Juvenile myelomonocytic leukemia 2023-07-21 criteria provided, single submitter clinical testing

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