Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000211540 | SCV000268468 | benign | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2015-02-20 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000211540 | SCV000358940 | likely benign | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2018-01-13 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000443722 | SCV000511933 | benign | not specified | 2015-07-20 | 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. |
Labcorp Genetics |
RCV000211540 | SCV000630294 | benign | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758717 | SCV000887496 | likely benign | not provided | 2018-01-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000443722 | SCV000918375 | benign | not specified | 2017-10-04 | criteria provided, single submitter | clinical testing | Variant summary: The ACADM c.678A>G (p.Ala226Ala) variant involves the alteration of a non-conserved nucleotide causing a synoymous change and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1061/277140 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.029955 (1031/34418, 21 homozygotes). This frequency is about 6 times the estimated maximal expected allele frequency of a pathogenic ACADM variant (0.0054233), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. In addition, multiple clinical diagnostic laboratories classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publication. Taken together, this variant is classified as "benign." |
Ambry Genetics | RCV002363054 | SCV002662493 | likely benign | Inborn genetic diseases | 2022-02-17 | 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. |
Breakthrough Genomics, |
RCV000758717 | SCV005258594 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV000211540 | SCV002092844 | benign | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2017-05-23 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003907788 | SCV004724380 | benign | ACADM-related disorder | 2020-04-17 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |