ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1699G>A (p.Asp567Asn)

gnomAD frequency: 0.00002  dbSNP: rs757586383
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562953 SCV000674145 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-06 criteria provided, single submitter clinical testing The p.D567N variant (also known as c.1699G>A), located in coding exon 15 of the NF2 gene, results from a G to A substitution at nucleotide position 1699. The aspartic acid at codon 567 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but not in all 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.
Invitae RCV000693900 SCV000822323 uncertain significance Neurofibromatosis, type 2 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 567 of the NF2 protein (p.Asp567Asn). This variant is present in population databases (rs757586383, gnomAD 0.004%). 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: 485981). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Mendelics RCV000693900 SCV000839527 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000693900 SCV002044909 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003148796 SCV003836818 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 11756419)

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