ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3809_3838del (p.Ser1270_Ser1279del)

dbSNP: rs2151437941
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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 RCV002008674 SCV002277461 pathogenic Neurofibromatosis, type 1 2023-10-03 criteria provided, single submitter clinical testing This variant, c.3809_3838del, results in the deletion of 10 amino acid(s) of the NF1 protein (p.Ser1270_Ser1279del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis type 1 (Invitae). ClinVar contains an entry for this variant (Variation ID: 1485454). This variant disrupts a region of the NF1 protein in which other variant(s) (p.Arg1276Gly) have been determined to be pathogenic (PMID: 8628317, 15060124, 31595648). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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