ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8106C>A (p.Tyr2702Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004597213 SCV005085881 likely pathogenic Neurofibromatosis, type 1 criteria provided, single submitter clinical testing The variant likely introduces a prematuretermination codon, which may either result in truncated protein or trigger nonsense-medicated decay.Mono-allelic loss of function variants (nonsense/frameshift) including those located towards the 3’end of NF1 are known to be causative of neurofibromatosis type 1 (Pros E et al.,2008). Thus, above-mentioned findings confirm the diagnosis of neurofibromatosis, type 1.

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