ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.347A>G (p.His116Arg)

gnomAD frequency: 0.00001  dbSNP: rs371373672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811203 SCV000951458 uncertain significance Neurofibromatosis, type 2 2024-01-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 116 of the NF2 protein (p.His116Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 655094). 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 NF2 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV001020398 SCV001181872 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-07 criteria provided, single submitter clinical testing The p.H116R variant (also known as c.347A>G), located in coding exon 3 of the NF2 gene, results from an A to G substitution at nucleotide position 347. The histidine at codon 116 is replaced by arginine, 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.
Genome-Nilou Lab RCV000811203 SCV002044844 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461198 SCV004199062 uncertain significance Familial meningioma 2023-06-26 criteria provided, single submitter clinical testing

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