ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6386T>C (p.Ile2129Thr)

dbSNP: rs1287981187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001988075 SCV002220279 uncertain significance Neurofibromatosis, type 1 2021-06-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 2108 of the NF1 protein (p.Ile2108Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004558756 SCV003662390 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-11-09 criteria provided, single submitter clinical testing The c.6323T>C (p.I2108T) alteration is located in exon 41 (coding exon 41) of the NF1 gene. This alteration results from a T to C substitution at nucleotide position 6323, causing the isoleucine (I) at amino acid position 2108 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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