ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.191T>C (p.Leu64Pro)

dbSNP: rs2065661430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303321 SCV001492562 uncertain significance Neurofibromatosis, type 2 2020-06-01 criteria provided, single submitter clinical testing 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. This variant has been reported to affect NF2 protein function (PMID: 24595234, 19451225, 11809806, 15598747, 9931334, 12695331). This variant has been observed in individual(s) with neurofibromatosis type 2 (PMID: 25931164, 26073919). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 64 of the NF2 protein (p.Leu64Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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