ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg)

dbSNP: rs1135402801
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837935 SCV002098181 likely pathogenic not provided 2022-02-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28961165)
Labcorp Genetics (formerly Invitae), Labcorp RCV000497123 SCV004539026 uncertain significance Neurofibromatosis, type 1 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 354 of the NF1 protein (p.Lys354Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of neurofibromatosis type I (NF1) (PMID: 28961165). ClinVar contains an entry for this variant (Variation ID: 431576). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Medical Genetics, University of Parma RCV000497123 SCV000588710 uncertain significance Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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