ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)

gnomAD frequency: 0.00001  dbSNP: rs140653372
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163499 SCV000214057 likely benign Hereditary cancer-predisposing syndrome 2015-10-30 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Labcorp Genetics (formerly Invitae), Labcorp RCV000206471 SCV000260668 likely benign Neurofibromatosis, type 1 2025-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001124832 SCV001283827 uncertain significance Neurofibromatosis, familial spinal 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001124833 SCV001283828 uncertain significance Neurofibromatosis-Noonan syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001124834 SCV001283829 uncertain significance Café-au-lait macules with pulmonary stenosis 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000206471 SCV001283830 uncertain significance Neurofibromatosis, type 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000206471 SCV001368169 uncertain significance Neurofibromatosis, type 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.
GeneDx RCV001549334 SCV001769466 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21520333, 23656349, 25486365)
Sema4, Sema4 RCV000163499 SCV002527433 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-02 criteria provided, single submitter curation
Ambry Genetics RCV002415711 SCV002717537 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-08-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001549334 SCV004099084 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing PM1, PM2, PP2
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001549334 SCV005624529 uncertain significance not provided 2024-02-16 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415075 SCV000492630 uncertain significance Hyperactivity; Febrile seizure (within the age range of 3 months to 6 years); Visual loss; Cafe-au-lait spot; Strabismus; Abnormality of vision; Abnormal electroretinogram; Abnormal macular morphology; Abnormality of macular pigmentation; EEG with generalized slow activity 2016-03-21 no assertion criteria provided clinical testing

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