ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) (rs1060503667)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462897 SCV000553667 pathogenic Neurofibromatosis, type 2 2016-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 144 (p.Tyr144*) of the NF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF2 are known to be pathogenic. This particular variant has been reported in the literature in an individual with neurofibromatosis type 2 (PMID: 18033041). In addition, three different nucleotide changes (c.432C>A, c.431insA, c.430_431insAG) all with this same nonsense change (p.Tyr144*) have been reported in individuals with neurofibromatosis type 2 (PMID 9817921, 15684865). For these reasons, this variant has been classified as Pathogenic.

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