ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4110+14T>C

gnomAD frequency: 0.00001  dbSNP: rs1019229165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611215 SCV000725127 likely benign not specified 2017-11-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064189 SCV002489414 likely benign Neurofibromatosis, type 1 2025-01-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002064189 SCV002560712 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000611215 SCV005075922 likely benign not specified 2024-04-01 criteria provided, single submitter clinical testing Variant summary: NF1 c.4110+14T>C alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 251252 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4110+14T>C in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 513675). Based on the evidence outlined above, the variant was classified as likely benign.

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