Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163550 | SCV000214108 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Labcorp Genetics |
RCV000198661 | SCV000252684 | benign | Neurofibromatosis, type 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000245250 | SCV000306261 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000514507 | SCV000521062 | likely benign | not provided | 2021-04-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18041031, 16944272, 16199547, 15060124) |
Center for Pediatric Genomic Medicine, |
RCV000514507 | SCV000609638 | likely benign | not provided | 2017-03-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000514507 | SCV000696394 | benign | not provided | 2017-08-21 | criteria provided, single submitter | clinical testing | Variant summary: The NF1 c.3867C>T (p.Phe1289Phe) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change located in the Rho GTPase activation protein domain (InterPro). One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect the binding sites for splicing enhancers. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control database ExAC in 179/121342 control chromosomes (3 homozygotes) at a frequency of 0.0014752, which is approximately 7 times the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084), suggesting this variant is likely a benign polymorphism. This variant was found in Neurofibromatosis type 1 patients, including in one patient co-occurring with NF-1 c.1885G>A, p.G629R (not in our internal database, DM in HGMD) and was classified as a polymorphism (Mattocks_2004, Brinckmann_2007, Griffiths_2006). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign. |
Laboratory for Molecular Medicine, |
RCV000245250 | SCV000711645 | likely benign | not specified | 2017-03-07 | criteria provided, single submitter | clinical testing | p.Phe1289Phe in exon 28 of NF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (156/66710) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs138186428). |
Center for Human Genetics, |
RCV000198661 | SCV000782004 | likely benign | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000198661 | SCV001287405 | likely benign | Neurofibromatosis, type 1 | 2017-04-27 | 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, |
RCV001128022 | SCV001287406 | uncertain significance | Café-au-lait macules with pulmonary stenosis | 2017-04-27 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001128023 | SCV001287407 | uncertain significance | Neurofibromatosis, familial spinal | 2017-04-27 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001128024 | SCV001287408 | uncertain significance | Neurofibromatosis-Noonan syndrome | 2017-04-27 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
ARUP Laboratories, |
RCV000514507 | SCV002049585 | benign | not provided | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000245250 | SCV002071811 | likely benign | not specified | 2021-02-05 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163550 | SCV002527536 | benign | Hereditary cancer-predisposing syndrome | 2020-10-07 | criteria provided, single submitter | curation | |
Institute for Biomarker Research, |
RCV000163550 | SCV002819192 | benign | Hereditary cancer-predisposing syndrome | 2022-09-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514507 | SCV002822381 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | NF1: BP4, BP7, BS1, BS2 |
Ambry Genetics | RCV004558355 | SCV003941022 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-06-01 | 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. |
Clinical Molecular Genetics Laboratory, |
RCV000198661 | SCV000692351 | uncertain significance | Neurofibromatosis, type 1 | 2016-06-03 | no assertion criteria provided | clinical testing |