ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.619T>C (p.Tyr207His)

dbSNP: rs1601618565
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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 RCV001024994 SCV001187098 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing The p.Y207H variant (also known as c.619T>C), located in coding exon 7 of the NF2 gene, results from a T to C substitution at nucleotide position 619. The tyrosine at codon 207 is replaced by histidine, 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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