ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)

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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 RCV002387688 SCV002691895 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-25 criteria provided, single submitter clinical testing The p.D45Y variant (also known as c.133G>T), located in coding exon 2 of the NF2 gene, results from a G to T substitution at nucleotide position 133. The aspartic acid at codon 45 is replaced by tyrosine, an amino acid with highly dissimilar 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.
Baylor Genetics RCV004572404 SCV005052364 uncertain significance Familial meningioma 2024-03-10 criteria provided, single submitter clinical testing

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