ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1343C>G (p.Ala448Gly)

dbSNP: rs2066911555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295382 SCV001484301 uncertain significance Neurofibromatosis, type 2 2023-07-06 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 999388). 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 alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 448 of the NF2 protein (p.Ala448Gly).
Ambry Genetics RCV002379987 SCV002688771 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-29 criteria provided, single submitter clinical testing The p.A448G variant (also known as c.1343C>G), located in coding exon 13 of the NF2 gene, results from a C to G substitution at nucleotide position 1343. The alanine at codon 448 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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.

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