Total submissions: 20
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130730 | SCV000185621 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-03 | criteria provided, single submitter | clinical testing | Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification |
Labcorp Genetics |
RCV000989823 | SCV000253228 | benign | Neurofibromatosis, type 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000034590 | SCV000570150 | benign | not provided | 2018-02-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000480111 | SCV000806319 | benign | not specified | 2015-09-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000480111 | SCV000917888 | benign | not specified | 2023-01-30 | criteria provided, single submitter | clinical testing | Variant summary: NF1 c.7532C>T (p.Ala2511Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00079 in 251060 control chromosomes. The observed variant frequency is approximately 317-fold of the estimated maximal expected allele frequency for a pathogenic variant in NF1 causing Noonan Syndrome And Related Conditions phenotype (2.5e-06), strongly suggesting that the variant is benign. c.7532C>T has been reported in the literature in individuals affected Neurofibromatosis Type I (e.g. Tsipi_2018, Ben Aim_2019). These report(s) do not provide unequivocal conclusions about association of the variant with NF1-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Fifteen ClinVar submitters (evaluation after 2014) cites the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Laboratory for Molecular Medicine, |
RCV000480111 | SCV000967009 | benign | not specified | 2018-04-06 | criteria provided, single submitter | clinical testing | p.Ala2532Val in exon 51 of NF1: This variant is classified as benign because it has been identified in 0.93% (94/10136) of Ashkenazi Jewish chromosomes by the G enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs14 8154172). ACMG/AMP Criteria applied (Richards 2015): BA1. |
Mendelics | RCV000989823 | SCV001140397 | likely benign | Neurofibromatosis, type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001122667 | SCV001281412 | benign | Neurofibromatosis-Noonan syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000989823 | SCV001281413 | likely benign | Neurofibromatosis, type 1 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001122668 | SCV001281414 | likely benign | Café-au-lait macules with pulmonary stenosis | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001122669 | SCV001281415 | likely benign | Neurofibromatosis, familial spinal | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Genetic Services Laboratory, |
RCV000480111 | SCV002068160 | benign | not specified | 2019-11-13 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000130730 | SCV002528114 | benign | Hereditary cancer-predisposing syndrome | 2020-07-21 | criteria provided, single submitter | curation | |
Genome- |
RCV000989823 | SCV002561307 | benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Medical Genetics, |
RCV000989823 | SCV002567771 | benign | Neurofibromatosis, type 1 | 2022-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390138 | SCV002670768 | benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-04-22 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000480111 | SCV002774042 | benign | not specified | 2021-04-21 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000130730 | SCV002819210 | likely benign | Hereditary cancer-predisposing syndrome | 2022-10-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000034590 | SCV004142572 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | NF1: PP3, BS1 |
Biesecker Lab/Clinical Genomics Section, |
RCV000034590 | SCV000043394 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |