ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7519A>G (p.Thr2507Ala)

dbSNP: rs1597862129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001920208 SCV002160142 uncertain significance Neurofibromatosis, type 1 2023-09-11 criteria provided, single submitter clinical testing 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: 1397411). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2486 of the NF1 protein (p.Thr2486Ala).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998993 SCV005624655 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006182 SCV005639970 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-05-04 criteria provided, single submitter clinical testing

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