ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.815C>T (p.Thr272Ile)

dbSNP: rs1555997534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566102 SCV000674151 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-05 criteria provided, single submitter clinical testing The p.T272I variant (also known as c.815C>T), located in coding exon 9 of the NF2 gene, results from a C to T substitution at nucleotide position 815. The threonine at codon 272 is replaced by isoleucine, 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.

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