ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly)

dbSNP: rs1135402862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497027 SCV001205460 pathogenic Neurofibromatosis, type 1 2022-03-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this missense change is associated with altered splicing resulting in unknown protein product impact (PMID: 12403553). 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 not expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 431644). This missense change has been observed in individual(s) with neurofibromatosis type 1 (PMID: 28961165, 31766501). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1479 of the NF1 protein (p.Ser1479Gly).
Medical Genetics, University of Parma RCV000497027 SCV000588786 uncertain significance Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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