ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227408 SCV003923910 uncertain significance not provided 2023-05-19 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: 35240321)
Labcorp Genetics (formerly Invitae), Labcorp RCV003598164 SCV004461990 likely pathogenic Neurofibromatosis, type 1 2023-09-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 2501613). This missense change has been observed in individual(s) with neurofibromatosis type 1 (PMID: 35240321). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1709 of the NF1 protein (p.Thr1709Pro).

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