ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)

dbSNP: rs137854564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680822 SCV000808269 likely pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24803665, 25486365, 22807134, 35885913, 15520408)
Labcorp Genetics (formerly Invitae), Labcorp RCV000000402 SCV001209970 pathogenic Neurofibromatosis, type 1 2024-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1243 of the NF1 protein (p.Leu1243Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with neurofibromatosis type 1 (PMID: 15520408; internal data). ClinVar contains an entry for this variant (Variation ID: 371). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt NF1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000402 SCV000020546 pathogenic Neurofibromatosis, type 1 2004-11-01 no assertion criteria provided literature only

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