ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7G>A (p.Ala3Thr)

dbSNP: rs1598173770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815492 SCV000955950 uncertain significance Neurofibromatosis, type 1 2022-02-18 criteria provided, single submitter clinical testing 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: 658636). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3 of the NF1 protein (p.Ala3Thr).
Ambry Genetics RCV002422823 SCV002679431 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-02-10 criteria provided, single submitter clinical testing The p.A3T variant (also known as c.7G>A), located in coding exon 1 of the NF1 gene, results from a G to A substitution at nucleotide position 7. The alanine at codon 3 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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.

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