Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522404 | SCV000616740 | pathogenic | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | Functional analysis in E.coli found that this variant is associated with no detectable residual enzyme activity (Casals et al., 2003).; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 12746442) |
Foundation for Research in Genetics and Endocrinology, |
RCV000672903 | SCV002818465 | pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase | 2022-12-30 | criteria provided, single submitter | clinical testing | A Homozygous missense variation in exon 7 of the HMGCL gene that results in the amino acid substitution of Tyrosine for Serine at codon 201 was detected. The observed variation lies in the BAR domain of APPL family of HMGCL protien and has previously been reported in patients affected with HMG-CoA lyase deficiency. The c.602C>A (p.Ser201Tyr) variant has not been reported in the 1000 genomes and gnomAD databases and has a minor allele frequency of 0.01% in our internal database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic. |
Genome- |
RCV000672903 | SCV004173097 | pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000672903 | SCV004199888 | pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000672903 | SCV000798055 | uncertain significance | Deficiency of hydroxymethylglutaryl-CoA lyase | 2018-02-21 | no assertion criteria provided | clinical testing |