ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.602A>G (p.Asp201Gly)

dbSNP: rs1601618525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343056 SCV001537013 uncertain significance Neurofibromatosis, type 2 2022-09-07 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1039559). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 201 of the NF2 protein (p.Asp201Gly).
Ambry Genetics RCV002357184 SCV002660443 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-01 criteria provided, single submitter clinical testing The p.D201G variant (also known as c.602A>G), located in coding exon 7 of the NF2 gene, results from an A to G substitution at nucleotide position 602. The aspartic acid at codon 201 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV001343056 SCV004831787 uncertain significance Neurofibromatosis, type 2 2023-05-16 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 201 of the NF2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with NF2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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