ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)

dbSNP: rs1597829901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791495 SCV000930747 pathogenic Neurofibromatosis, type 1 2022-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 638839). This missense change has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23758643, 25074460, 31776437). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1661 of the NF1 protein (p.Cys1661Arg).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000791495 SCV001479172 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001776000 SCV002012662 uncertain significance not provided 2021-01-14 criteria provided, single submitter clinical testing Variant identified in individuals with clinically diagnosed neurofibromatosis type 1, one of which was apparently de novo, in the published literature (Nemethova et al., 2013; Pasmant et al., 2015); Not observed in large population cohorts (Lek et al., 2016); 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: 23758643, 25074460, 31776437)

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