ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820780 SCV000961507 likely pathogenic Neurofibromatosis, type 1 2018-12-09 criteria provided, single submitter clinical testing This variant, c.243_254delinsTGAGAGAGA, results in in-frame substitution of 4 amino acids at codons 82 to 85 of the NF1 protein (p.Ser82_Ile85delinsGluArgAsp), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of neurofibromatosis type 1 (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Variants that disrupt the p.Ser82 amino acid residue in NF1 have been observed in affected individuals (PMID: 11857752, 16944272). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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