ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2904G>A (p.Met968Ile)

dbSNP: rs1597716342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319624 SCV001177900 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-11-18 criteria provided, single submitter clinical testing The p.M968I variant (also known as c.2904G>A), located in coding exon 22 of the NF1 gene, results from a G to A substitution at nucleotide position 2904. The methionine at codon 968 is replaced by isoleucine, an amino acid with highly 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 RCV003598025 SCV004411898 uncertain significance Neurofibromatosis, type 1 2022-11-09 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: 821955). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 968 of the NF1 protein (p.Met968Ile).

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