ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) (rs1379674036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709608 SCV000839519 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001009764 SCV001169869 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-27 criteria provided, single submitter clinical testing The p.R353S variant (also known as c.1059G>C), located in coding exon 11 of the NF2 gene, results from a G to C substitution at nucleotide position 1059. The arginine at codon 353 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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