ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)

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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 RCV002403911 SCV002709104 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-05 criteria provided, single submitter clinical testing The p.T556I variant (also known as c.1667C>T), located in coding exon 15 of the NF2 gene, results from a C to T substitution at nucleotide position 1667. The threonine at codon 556 is replaced by isoleucine, 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.
Baylor Genetics RCV003465731 SCV004199059 uncertain significance Familial meningioma 2023-07-12 criteria provided, single submitter clinical testing

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