Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202170 | SCV001373275 | uncertain significance | Deficiency of hydroxymethylglutaryl-CoA lyase | 2022-01-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 205 of the HMGCL protein (p.Thr205Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with sudden unexpected death (PMID: 28747690). ClinVar contains an entry for this variant (Variation ID: 933868). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Myriad Genetics, |
RCV001202170 | SCV002060025 | uncertain significance | Deficiency of hydroxymethylglutaryl-CoA lyase | 2021-11-08 | criteria provided, single submitter | clinical testing | NM_000191.2(HMGCL):c.614C>G(T205S) is a missense variant classified as a variant of uncertain significance in the context of HMG-CoA lyase deficiency. T205S has not been observed in cases with relevant disease. Functional assessments of this variant are not available in the literature. T205S has not been observed in population frequency databases. In summary, there is insufficient evidence to classify NM_000191.2(HMGCL):c.614C>G(T205S) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening. |
Genome- |
RCV001202170 | SCV004172434 | uncertain significance | Deficiency of hydroxymethylglutaryl-CoA lyase | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828623 | SCV002094158 | uncertain significance | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-04-21 | no assertion criteria provided | clinical testing |