ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)

dbSNP: rs1379683835
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325308 SCV001516295 uncertain significance Neurofibromatosis, type 2 2023-09-08 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) performed at Invitae indicates that this missense variant is not expected to disrupt NF2 protein function. ClinVar contains an entry for this variant (Variation ID: 1025043). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 572 of the NF2 protein (p.Ser572Arg).
Mayo Clinic Laboratories, Mayo Clinic RCV001508930 SCV001715370 uncertain significance not provided 2020-02-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001325308 SCV002044912 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402912 SCV002713561 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-15 criteria provided, single submitter clinical testing The p.S572R variant (also known as c.1714A>C), located in coding exon 15 of the NF2 gene, results from an A to C substitution at nucleotide position 1714. The serine at codon 572 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well 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.
CeGaT Center for Human Genetics Tuebingen RCV001508930 SCV004033938 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing NF2: BP1

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