ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala)

dbSNP: rs1597858568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002416293 SCV001188514 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-03-18 criteria provided, single submitter clinical testing The p.T2412A variant (also known as c.7234A>G), located in coding exon 48 of the NF1 gene, results from an A to G substitution at nucleotide position 7234. The threonine at codon 2412 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001054296 SCV001218604 uncertain significance Neurofibromatosis, type 1 2024-02-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2412 of the NF1 protein (p.Thr2412Ala). This variant is not present in population databases (gnomAD no frequency). 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: 826923). 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 RCV001054296 SCV002561055 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV004570065 SCV005052269 uncertain significance Juvenile myelomonocytic leukemia 2024-01-08 criteria provided, single submitter clinical testing

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