ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.94G>A (p.Glu32Lys) (rs373337083)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019416 SCV001180772 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-29 criteria provided, single submitter clinical testing The p.E32K variant (also known as c.94G>A), located in coding exon 1 of the NF2 gene, results from a G to A substitution at nucleotide position 94. The glutamic acid at codon 32 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Invitae RCV001236960 SCV001409703 uncertain significance Neurofibromatosis, type 2 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 32 of the NF2 protein (p.Glu32Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF2-related conditions. 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: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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.

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