ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4299C>T (p.Leu1433=) (rs864622298)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217006 SCV000273464 likely benign Hereditary cancer-predisposing syndrome 2015-01-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000221952 SCV000919872 uncertain significance not specified 2017-10-26 criteria provided, single submitter clinical testing Variant summary: The NF1 c.4299C>T (p.Leu1433Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/232976 control chromosomes at a frequency of 0.0000129, which does not exceed the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000205956 SCV000260031 likely benign Neurofibromatosis, type 1 2017-10-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221952 SCV000270620 likely benign not specified 2015-07-14 criteria provided, single submitter clinical testing p.Leu1454Leu in exon 33 of NF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.

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