Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078439 | SCV000110292 | benign | not specified | 2013-03-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000078439 | SCV000303173 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000203384 | SCV000463867 | benign | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2018-03-06 | 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. |
ARUP Laboratories, |
RCV000203384 | SCV000884157 | benign | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000078439 | SCV000917796 | benign | not specified | 2018-12-03 | criteria provided, single submitter | clinical testing | Variant summary: MUT c.1495G>A (p.Ala499Thr) results in a non-conservative amino acid change located in the Methylmalonyl-CoA mutase, alpha chain, catalytic domain of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.099 in 275710 control chromosomes in the gnomAD database, including 1409 homozygotes. The observed variant frequency is approximately 41-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in MUT causing Methylmalonic Acidemia phenotype (0.0024), strongly suggesting that the variant is benign. Two ClinVar submissions (evaluation after 2014) cite the variant as likely benign/benign. Based on the evidence outlined above, the variant was classified as benign. |
Mendelics | RCV000203384 | SCV001137131 | likely benign | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001520004 | SCV001728993 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001520004 | SCV001940752 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000203384 | SCV000258485 | not provided | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | no assertion provided | literature only | ||
Natera, |
RCV001271701 | SCV001453049 | benign | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |