ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly)

dbSNP: rs1567849533
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709416 SCV000839141 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319566 SCV001177840 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-10-05 criteria provided, single submitter clinical testing The p.A966G variant (also known as c.2897C>G), located in coding exon 22 of the NF1 gene, results from a C to G substitution at nucleotide position 2897. The alanine at codon 966 is replaced by glycine, 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.
Invitae RCV000709416 SCV002149257 uncertain significance Neurofibromatosis, type 1 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 966 of the NF1 protein (p.Ala966Gly). 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: 584929). 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 RCV000709416 SCV002562104 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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