ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.794C>T (p.Ser265Leu)

dbSNP: rs1601624241
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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 RCV001026988 SCV001189473 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-31 criteria provided, single submitter clinical testing The p.S265L variant (also known as c.794C>T), located in coding exon 8 of the NF2 gene, results from a C to T substitution at nucleotide position 794. The serine at codon 265 is replaced by leucine, an amino acid with 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.

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