Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001348318 | SCV001542618 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2022-08-20 | criteria provided, single submitter | clinical testing | 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1044110). This missense change has been observed in individual(s) with VLCAD deficiency (PMID: 30194637). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 378 of the ACADVL protein (p.Leu378Pro). |
Gene |
RCV001568489 | SCV001792371 | uncertain significance | not provided | 2020-07-27 | criteria provided, single submitter | clinical testing | Reported in a patient with suspected very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency who had 38% residual enzyme activity in lymphoblasts; a second ACADVL variant was not identified in the patient (Hesse et al., 2018); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30194637) |