ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2541T>C (p.Leu847=) (rs147433258)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220939 SCV000272953 likely benign Hereditary cancer-predisposing syndrome 2015-02-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781663 SCV000919878 benign not specified 2018-02-26 criteria provided, single submitter clinical testing Variant summary: NF1 c.2541T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The observed variant frequency within African control individuals in the gnomAD database is approximately 3.41 fold of the estimated maximal expected allele frequency for a pathogenic variant in NF1 causing Neurofibromatosis Type 1 phenotype (0.00021), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.2541T>C in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000205310 SCV000259301 likely benign Neurofibromatosis, type 1 2017-09-26 criteria provided, single submitter clinical testing

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