ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3709_3714del (p.Asp1237_Glu1238del)

dbSNP: rs2151437703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018272 SCV002303754 likely pathogenic Neurofibromatosis, type 1 2021-03-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant, c.3709_3714del, results in the deletion of 2 amino acid(s) of the NF1 protein (p.Asp1237_Glu1238del), but otherwise preserves the integrity of the reading frame. This variant has been observed in individual(s) with clinical features of Neurofibromatosis, type 1 (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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