ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1012C>T (p.Arg338Cys)

gnomAD frequency: 0.00002  dbSNP: rs761795291
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432645 SCV000536556 uncertain significance not provided 2020-07-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28481359, 18547414)
Invitae RCV000559539 SCV000628841 uncertain significance Neurofibromatosis, type 2 2023-08-23 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NF2 protein function. ClinVar contains an entry for this variant (Variation ID: 393183). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is present in population databases (rs761795291, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 338 of the NF2 protein (p.Arg338Cys).
Ambry Genetics RCV001016950 SCV001177960 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-01 criteria provided, single submitter clinical testing The p.R338C variant (also known as c.1012C>T), located in coding exon 11 of the NF2 gene, results from a C to T substitution at nucleotide position 1012. The arginine at codon 338 is replaced by cysteine, an amino acid with highly dissimilar 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.
Genome-Nilou Lab RCV000559539 SCV002044869 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470386 SCV004199039 uncertain significance Familial meningioma 2023-09-22 criteria provided, single submitter clinical testing

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