ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.670A>G (p.Ile224Val)

dbSNP: rs1555994825
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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 RCV000791971 SCV000931242 uncertain significance Neurofibromatosis, type 2 2022-11-28 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. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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 expected to disrupt NF2 protein function. ClinVar contains an entry for this variant (Variation ID: 639228). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 224 of the NF2 protein (p.Ile224Val).
Ambry Genetics RCV002360910 SCV002666225 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-10 criteria provided, single submitter clinical testing The p.I224V variant (also known as c.670A>G), located in coding exon 7 of the NF2 gene, results from an A to G substitution at nucleotide position 670. The isoleucine at codon 224 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003461067 SCV004199060 uncertain significance Familial meningioma 2023-07-04 criteria provided, single submitter clinical testing

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