ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5013C>A (p.Tyr1671Ter)

dbSNP: rs1060500255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458556 SCV000541987 pathogenic Neurofibromatosis, type 1 2019-05-08 criteria provided, single submitter clinical testing This nonsense change has been observed in several individuals affected with neurofibromatosis, type 1 (PMID: 22155606, 22108604, 15060124, 27999334). ClinVar contains an entry for this variant (Variation ID: 404434). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1650*) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Neuberg Centre For Genomic Medicine, NCGM RCV000458556 SCV005373701 uncertain significance Neurofibromatosis, type 1 2023-05-20 criteria provided, single submitter clinical testing The stop gained c.5013C>A (p.Tyr1671Ter) variant in the NF1 gene has been been reported as a recurring pathogenic variant in several individuals affected with Neurofibromatosis Type 1 (Thomas, Laura et al., 2012). This variant is absent in the gnomAD. This variant has been reported to the ClinVar database as Pathogenic. Computational evidence (MutationTaster - Disease causing) predicts damaging effect on protein structure and function for this variant. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.

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