ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1726A>T (p.Thr576Ser) (rs1601666549)

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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 RCV001012906 SCV001173424 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-21 criteria provided, single submitter clinical testing The p.T576S variant (also known as c.1726A>T), located in coding exon 15 of the NF2 gene, results from an A to T substitution at nucleotide position 1726. The threonine at codon 576 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved through mammals but not in all 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 RCV001220620 SCV001392623 uncertain significance Neurofibromatosis, type 2 2019-06-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 576 of the NF2 protein (p.Thr576Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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