Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167490 | SCV000218348 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-30 | 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 |
RCV000228618 | SCV000284481 | likely benign | Neurofibromatosis, type 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697201 | SCV000727164 | likely benign | not provided | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000167490 | SCV002527630 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-17 | criteria provided, single submitter | curation | |
Genome- |
RCV000228618 | SCV002560847 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Medical Genetics, |
RCV000228618 | SCV002567810 | benign | Neurofibromatosis, type 1 | 2022-08-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226230 | SCV003922599 | likely benign | not specified | 2023-03-20 | criteria provided, single submitter | clinical testing | Variant summary: NF1 c.5730T>C alters a conserved nucleotide resulting in a synonymous change. One computational tool predicts the variant may affect splicing. However, this prediction has yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.4e-05 in 251072 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5730T>C has been reported in the literature in individuals affected with breast cancer. These report(s) do not provide unequivocal conclusions about association of the variant with Neurofibromatosis Type 1. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Prevention |
RCV004552934 | SCV004712810 | likely benign | NF1-related disorder | 2020-09-08 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |