ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6611C>T (p.Thr2204Ile)

dbSNP: rs1597843996
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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 RCV002354960 SCV001187573 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-06-11 criteria provided, single submitter clinical testing Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001054581 SCV001218901 uncertain significance Neurofibromatosis, type 1 2023-04-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2183 of the NF1 protein (p.Thr2183Ile). This variant has not been reported in the literature in individuals affected with NF1-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 826474).
Genome-Nilou Lab RCV001054581 SCV002560973 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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