ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6819+6T>C

gnomAD frequency: 0.00001  dbSNP: rs1407700643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705996 SCV000835023 likely benign Neurofibromatosis, type 1 2024-08-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780542 SCV000917885 uncertain significance not specified 2018-01-02 criteria provided, single submitter clinical testing Variant summary: The NF1 c.6756+6T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/215414 control chromosomes at a frequency of 0.0000046, which does not exceed the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Genome-Nilou Lab RCV000705996 SCV002561005 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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