ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2133C>T (p.Arg711=) (rs148085908)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163626 SCV000214194 likely benign Hereditary cancer-predisposing syndrome 2014-09-10 criteria provided, single submitter clinical testing
Invitae RCV001084468 SCV000253205 likely benign Neurofibromatosis, type 1 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242035 SCV000306246 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000681185 SCV000808643 likely benign not provided 2018-03-29 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.
Integrated Genetics/Laboratory Corporation of America RCV000242035 SCV001362232 likely benign not specified 2019-06-28 criteria provided, single submitter clinical testing Variant summary: NF1 c.2133C>T 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 variant allele was found at a frequency of 0.0001 in 251036 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in NF1 causing Neurofibromatosis Type 1 (0.0001 vs 0.00021), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2133C>T in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified this variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign

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