ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.107C>T (p.Thr36Ile)

dbSNP: rs199966218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316663 SCV000666808 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-05 criteria provided, single submitter clinical testing The p.T36I variant (also known as c.107C>T), located in coding exon 2 of the NF1 gene, results from a C to T substitution at nucleotide position 107. The threonine at codon 36 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001204266 SCV001375465 uncertain significance Neurofibromatosis, type 1 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 36 of the NF1 protein (p.Thr36Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 481973). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NF1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001204266 SCV002561407 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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