Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000343980 | SCV000337083 | uncertain significance | not provided | 2017-02-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000298514 | SCV000480101 | likely benign | Inclusion Body Myopathy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000353363 | SCV000480102 | likely benign | GNE myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000277347 | SCV000480103 | benign | Sialuria | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV000533442 | SCV000632640 | likely benign | GNE myopathy; Sialuria | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000343980 | SCV002817667 | uncertain significance | not provided | 2023-02-09 | 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 |
Revvity Omics, |
RCV000343980 | SCV003815055 | uncertain significance | not provided | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003387823 | SCV004099599 | likely benign | not specified | 2023-09-07 | criteria provided, single submitter | clinical testing | Variant summary: GNE c.1360A>G (p.Ile454Val) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 282854 control chromosomes (gnomAD), predominantly at a frequency of 0.0017 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 1.5 fold of the estimated maximal expected allele frequency for a pathogenic variant in GNE causing Inclusion Body Myopathy 2 (0.0011), suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.1360A>G in individuals affected with Inclusion Body Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Seven ClinVar submitters have assessed the variant since 2014: four classified the variant as uncertain significance, two as likely benign, and one as benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Mayo Clinic Laboratories, |
RCV000343980 | SCV004225029 | uncertain significance | not provided | 2023-04-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977768 | SCV004790433 | likely benign | GNE-related condition | 2022-11-13 | 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). |
Natera, |
RCV000353363 | SCV001457582 | uncertain significance | GNE myopathy | 2020-01-08 | no assertion criteria provided | clinical testing |