ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1635A>T (p.Glu545Asp)

dbSNP: rs1556003698
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499490 SCV000595981 uncertain significance not specified 2017-06-07 criteria provided, single submitter clinical testing
Invitae RCV000703302 SCV000832198 uncertain significance Neurofibromatosis, type 2 2023-07-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF2-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 NF2 protein function. ClinVar contains an entry for this variant (Variation ID: 435976). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 545 of the NF2 protein (p.Glu545Asp).
Genome-Nilou Lab RCV000703302 SCV002044905 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404314 SCV002707925 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-26 criteria provided, single submitter clinical testing The p.E545D variant (also known as c.1635A>T), located in coding exon 15 of the NF2 gene, results from an A to T substitution at nucleotide position 1635. The glutamic acid at codon 545 is replaced by aspartic acid, 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.

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