ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.575G>A (p.Arg192Gln) (rs587781670)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129826 SCV000184641 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-08 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000476088 SCV000542153 uncertain significance Neurofibromatosis, type 1 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 192 of the NF1 protein (p.Arg192Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs587781670, ExAC 0.08%). This variant has been observed in an individual with clinical features of neurofibromatosis type 1 (PMID: 30290804). However, in that individual another pathogenic allele was also identified in NF1, which suggests that this c.575G>A variant was not likely to be the primary cause of clinical indication. ClinVar contains an entry for this variant (Variation ID: 141341). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics RCV000765343 SCV000896607 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing

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