ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.683A>G (p.Lys228Arg)

gnomAD frequency: 0.00002  dbSNP: rs145384260
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632636 SCV000753821 likely benign Neurofibromatosis, type 2 2024-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025713 SCV001187957 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-25 criteria provided, single submitter clinical testing The p.K228R variant (also known as c.683A>G), located in coding exon 8 of the NF2 gene, results from an A to G substitution at nucleotide position 683. The lysine at codon 228 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in 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.
Genome-Nilou Lab RCV000632636 SCV002044857 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459508 SCV004199032 uncertain significance Familial meningioma 2023-10-27 criteria provided, single submitter clinical testing
GeneDx RCV004760664 SCV005370120 uncertain significance not provided 2023-05-30 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, 16324214)

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